NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter) AND Para-Bombay phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 21, 1994
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:: RCV000012924.17

Allele description [Variation Report for NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)]

NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)

Gene:

FUT1:fucosyltransferase 1 (H blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)

HGVS:

NC_000019.10:g.48750456G>A
NG_007510.2:g.9935C>T
NM_000148.4:c.826C>T
NM_001329877.1:c.826C>T
NM_001384359.1:c.826C>TMANE SELECT
NP_000139.1:p.Gln276Ter
NP_001316806.1:p.Gln276Ter
NP_001371288.1:p.Gln276Ter
LRG_810t1:c.826C>T
LRG_810t2:c.826C>T
LRG_810t3:c.826C>T
LRG_810:g.9935C>T
LRG_810p1:p.Gln276Ter
LRG_810p2:p.Gln276Ter
LRG_810p3:p.Gln276Ter
NC_000019.9:g.49253713G>A

Protein change:

Q276*; GLN276TER

Links:

OMIM: 211100.0003; dbSNP: rs104894688

NCBI 1000 Genomes Browser:

rs104894688

Molecular consequence:

NM_000148.4:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001329877.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001384359.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Para-Bombay phenotype
Identifiers:: MedGen: C1859411

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033165	OMIM	no assertion criteria provided	Pathogenic (Jun 21, 1994)	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

SCV000033165

OMIM

no assertion criteria provided

Pathogenic
(Jun 21, 1994)

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

Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals.

Kelly RJ, Ernst LK, Larsen RD, Bryant JG, Robinson JS, Lowe JB.

Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):5843-7.

PubMed [citation]

PMID:: 7912436
PMCID:: PMC44093

Details of each submission

From OMIM, SCV000033165.2

#	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 gln276-to-ter (Q276X) mutation in the FUT1 gene that was found in compound heterozygous state in an individual with the para-Bombay phenotype by Kelly et al. (1994), see 211100.0002.

#	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: Apr 23, 2022

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