NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) AND Retinitis pigmentosa 14

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000007789.3

Allele description [Variation Report for NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)]

NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)

Gene:

TULP1:TUB like protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)

HGVS:

NC_000006.12:g.35498437_35498447del
NG_009077.1:g.19426_19436del
NM_001289395.2:c.1352_1362del
NM_003322.6:c.1511_1521delMANE SELECT
NP_001276324.1:p.Leu451fs
NP_003313.3:p.Leu504fs
NC_000006.11:g.35466212_35466222del
NC_000006.11:g.35466214_35466224del
NM_003322.4:c.1511_1521delTGCAGTTCGGC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L451fs

Links:

OMIM: 602280.0008; dbSNP: rs1581734819

NCBI 1000 Genomes Browser:

rs1581734819

Molecular consequence:

NM_001289395.2:c.1352_1362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003322.6:c.1511_1521del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinitis pigmentosa 14 (RP14)
Synonyms:: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED; RP 14
Identifiers:: MONDO: MONDO:0010827; MedGen: C1838603; Orphanet: 791; OMIM: 600132

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027990	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027990

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.

Arch Ophthalmol. 2007 Jul;125(7):932-5.

PubMed [citation]

PMID:: 17620573

Details of each submission

From OMIM, SCV000027990.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 11-bp deletion in the TULP1 gene (1511-1521) that was found in compound heterozygous state in family members with autosomal recessive retinitis pigmentosa (RP14; 600132) by den Hollander et al. (2007), see 602280.0007.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine