U.S. flag

An official website of the United States government

NM_000266.4(NDP):c.370C>T (p.Leu124Phe) AND Exudative vitreoretinopathy 2, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1993
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:
RCV000011430.5

Allele description [Variation Report for NM_000266.4(NDP):c.370C>T (p.Leu124Phe)]

NM_000266.4(NDP):c.370C>T (p.Leu124Phe)

Genes:
NDP-AS1:NDP antisense RNA 1 [Gene - HGNC]
NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_000266.4(NDP):c.370C>T (p.Leu124Phe)
HGVS:
  • NC_000023.11:g.43949831G>A
  • NG_009832.1:g.28845C>T
  • NM_000266.4:c.370C>TMANE SELECT
  • NP_000257.1:p.Leu124Phe
  • NC_000023.10:g.43809077G>A
  • NR_046631.1:n.100G>A
  • Q00604:p.Leu124Phe
Protein change:
L124F; LEU124PHE
Links:
UniProtKB: Q00604#VAR_005505; OMIM: 300658.0006; dbSNP: rs28933684
NCBI 1000 Genomes Browser:
rs28933684
Molecular consequence:
  • NM_000266.4:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046631.1:n.100G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Exudative vitreoretinopathy 2, X-linked
Synonyms:
EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2; FEVR, X-LINKED; Familial exudative vitreoretinopathy, X-linked
Identifiers:
MONDO: MONDO:0010588; MedGen: C1844579; Orphanet: 891; OMIM: 305390

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031662OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1993) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial exudative vitreo-retinopathy.

Dudgeon J.

Trans Ophthalmol Soc U K (1962). 1979 Apr;99(1):45-9.

PubMed [citation]
PMID:
95062

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW.

Br J Ophthalmol. 1993 Mar;77(3):168-70.

PubMed [citation]
PMID:
8457509
PMCID:
PMC504464
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000031662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a family with X-linked exudative vitreoretinopathy (EVR2; 305390) manifested by members of 4 generations (Dudgeon, 1979) and found to have possible linkage to markers in the region of the Norrie disease locus (Fullwood et al., 1993), Chen et al. (1993) demonstrated a C-to-T transition in the NDP gene, resulting in a leu124-to-phe (L124F) substitution in the highly conserved region of the NDP gene. The mutation was absent in unaffected family members and in normal controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024