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NM_000380.4(XPA):c.482C>T (p.Pro161Leu) AND Xeroderma pigmentosum

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002258535.2

Allele description [Variation Report for NM_000380.4(XPA):c.482C>T (p.Pro161Leu)]

NM_000380.4(XPA):c.482C>T (p.Pro161Leu)

Gene:
XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_000380.4(XPA):c.482C>T (p.Pro161Leu)
HGVS:
  • NC_000009.12:g.97687169G>A
  • NG_011642.1:g.15241C>T
  • NM_000380.4:c.482C>TMANE SELECT
  • NM_001354975.2:c.356C>T
  • NP_000371.1:p.Pro161Leu
  • NP_001341904.1:p.Pro119Leu
  • LRG_471t1:c.482C>T
  • LRG_471:g.15241C>T
  • NC_000009.11:g.100449451G>A
  • NM_000380.3:c.482C>T
  • NR_027302.2:n.530C>T
  • NR_149092.2:n.424C>T
  • NR_149093.2:n.530C>T
  • NR_149094.2:n.424C>T
Protein change:
P119L
Links:
dbSNP: rs1828744402
NCBI 1000 Genomes Browser:
rs1828744402
Molecular consequence:
  • NM_000380.4:c.482C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354975.2:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027302.2:n.530C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149092.2:n.424C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149093.2:n.530C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149094.2:n.424C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Xeroderma pigmentosum (XP)
Synonyms:
Xeroderma pigmentosa
Identifiers:
MONDO: MONDO:0019600; MedGen: C0043346

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002531514Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Uncertain significance
(Sep 28, 2021)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002531514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024