NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) AND Xeroderma pigmentosum, variant type

Clinical significance:Pathogenic (Last evaluated: Sep 4, 2012)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006248.1

Allele description [Variation Report for NM_006502.2(POLH):c.1117C>T (p.Gln373Ter)]

Gene:
POLH:polymerase (DNA directed), eta [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_006502.2(POLH):c.1117C>T (p.Gln373Ter)
HGVS:
  • NC_000006.12:g.43610596C>T
  • NG_009252.1:g.39456C>T
  • NM_006502.2:c.1117C>T
  • NP_006493.1:p.Gln373Ter
  • LRG_470t1:c.1117C>T
  • LRG_470:g.39456C>T
  • LRG_470p1:p.Gln373Ter
  • NC_000006.11:g.43578333C>T
Protein change:
V372*; VAL372TER
Links:
OMIM: 603968.0007; dbSNP: 121908564
NCBI 1000 Genomes Browser:
rs121908564
Molecular consequence:
  • NM_006502.2:c.1117C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Xeroderma pigmentosum, variant type (XPV)
Synonyms:
Xeroderma pigmentosum with normal DNA repair rates; Photosensitivity with defective DNA synthesis
Identifiers:
MedGen: C1848410; OMIM: 278750

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000026430OMIMPathogenic
(Sep 4, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

hRAD30 mutations in the variant form of xeroderma pigmentosum.

Johnson RE, Kondratick CM, Prakash S, Prakash L.

Science. 1999 Jul 9;285(5425):263-5.

PubMed [citation]
PMID:
10398605

Details of each submission

From OMIM, SCV000026430.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In the XPV (278750) cell line XP115LO, derived from an individual of Iranian origin who was the offspring of a first-cousin marriage, Johnson et al. (1999) identified a C-to-T transition at nucleotide 1117, which created a premature termination codon in place of valine at codon 372.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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