Variant #0000518177 (NC_000003.11:g.14220371A>G, XPC(NM_004628.4):c.-303T>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14220371A>G
DNA change (hg38) g.14178871A>G
Published as LSM3(NM_014463.2):c.11A>G (p.(Asp4Gly))
ISCN -
DB-ID LSM3_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -?/. - c.-303T>C r.(?) p.(=)
LSM3 NM_014463.2 -?/. - c.11A>G r.(?) p.(Asp4Gly)