Variant #0000248525 (NC_000003.11:g.14197987A>T, XPC(NM_004628.4):c.1881=)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14197987A>T
DNA change (hg38) g.14156487A>T
Published as XPC(NM_004628.4):c.1881T>A (p.A627=)
ISCN -
DB-ID XPC_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -/. - c.1881= r.(=) p.(Ala627=)