Variant #0000994703 (NC_000005.9:g.140236414A>G, NC_000005.9(NM_018900.2):c.2394+68145A>G (PCDHA1))

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.140236414A>G
DNA change (hg38) -
Published as PCDHA10(NM_018901.2):c.781A>G (p.(Ile261Val))
ISCN -
DB-ID PCDHA1_000070
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDHAC1 NM_018898.3 ?/. - c.-70064A>G r.(?) p.(=)
PCDHAC2 NM_018899.5 ?/. - c.-109938A>G r.(?) p.(=)
PCDHA1 NM_018900.2 ?/. - c.2394+68145A>G r.(=) p.(=)
PCDHA10 NM_018901.2 ?/. - c.781A>G r.(?) p.(Ile261Val)
PCDHA11 NM_018902.3 ?/. - c.-12275A>G r.(?) p.(=)
PCDHA12 NM_018903.2 ?/. - c.-18644A>G r.(?) p.(=)
PCDHA13 NM_018904.2 ?/. - c.-25440A>G r.(?) p.(=)
PCDHA2 NM_018905.2 ?/. - c.2388+59477A>G r.(=) p.(=)
PCDHA3 NM_018906.2 ?/. - c.2394+53238A>G r.(=) p.(=)
PCDHA4 NM_018907.2 ?/. - c.2385+47257A>G r.(=) p.(=)
PCDHA5 NM_018908.2 ?/. - c.2352+32702A>G r.(=) p.(=)
PCDHA6 NM_018909.2 ?/. - c.2394+26344A>G r.(=) p.(=)
PCDHA7 NM_018910.2 ?/. - c.2355+20091A>G r.(=) p.(=)
PCDHA8 NM_018911.2 ?/. - c.2394+13114A>G r.(=) p.(=)
PCDHA9 NM_031857.1 ?/. - c.2394+5940A>G r.(=) p.(=)


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