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NM_002253.4(KDR):c.2312C>T (p.Thr771Met) AND High myopia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV000785688.2

Allele description [Variation Report for NM_002253.4(KDR):c.2312C>T (p.Thr771Met)]

NM_002253.4(KDR):c.2312C>T (p.Thr771Met)

Gene:
KDR:kinase insert domain receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
HGVS:
  • NC_000004.12:g.55098758G>A
  • NG_012004.1:g.31838C>T
  • NM_002253.4:c.2312C>TMANE SELECT
  • NP_002244.1:p.Thr771Met
  • LRG_1198t1:c.2312C>T
  • LRG_1198:g.31838C>T
  • LRG_1198p1:p.Thr771Met
  • NC_000004.11:g.55964925G>A
  • NM_002253.2:c.2312C>T
  • NM_002253.3:c.2312C>T
Protein change:
T771M
Links:
dbSNP: rs149745504
NCBI 1000 Genomes Browser:
rs149745504
Molecular consequence:
  • NM_002253.4:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
High myopia
Synonyms:
Severe Myopia
Identifiers:
MedGen: C0271183; Human Phenotype Ontology: HP:0011003

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891416Institute of Human Genetics, Polish Academy of Sciences
no assertion criteria provided
Uncertain significance
(Dec 17, 2018) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Institute of Human Genetics, Polish Academy of Sciences, SCV000891416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024