NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile) AND Retinitis pigmentosa 10

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000015960.25

Allele description [Variation Report for NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile)]

NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile)

Gene:
IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile)
HGVS:
  • NC_000007.14:g.128398431C>T
  • NG_009194.1:g.16552G>A
  • NM_000883.3:c.1057G>A
  • NM_001102605.1:c.1027G>A
  • NM_001142573.1:c.802G>A
  • NM_001142574.1:c.787G>A
  • NM_001142575.1:c.727G>A
  • NM_001142576.1:c.958G>A
  • NM_183243.2:c.949G>A
  • NP_000874.2:p.Val353Ile
  • NP_001096075.1:p.Val343Ile
  • NP_001136045.1:p.Val268Ile
  • NP_001136046.1:p.Val263Ile
  • NP_001136047.1:p.Val243Ile
  • NP_001136048.1:p.Val320Ile
  • NP_899066.1:p.Val317Ile
  • NC_000007.13:g.128038485C>T
Protein change:
V243I; VAL268ILE
Links:
OMIM: 146690.0002; dbSNP: rs121912551
NCBI 1000 Genomes Browser:
rs121912551
Allele Frequency:
0.00003(T)
Molecular consequence:
  • NM_000883.3:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 10 (RP10)
Identifiers:
MedGen: C1867299; Orphanet: 791; OMIM: 180105

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036227OMIMno assertion criteria providedPathogenic
(Mar 1, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Hum Mol Genet. 2002 Mar 1;11(5):559-68.

PubMed [citation]
PMID:
11875050
PMCID:
PMC2585828

Details of each submission

From OMIM, SCV000036227.1

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

Description

In a family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; 180105), Bowne et al. (2002) identified a G-to-A transition at codon 268 of the IMPDH1 gene, substituting an isoleucine for valine (V268I). The mutation was absent among a European control cohort.

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

Last Updated: Jul 21, 2018