Variant #0000994700 (NC_000005.9:g.140175937T>G, NC_000005.9(NM_018900.2):c.2394+7668T>G (PCDHA1))

Chromosome 5
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.140175937T>G
DNA change (hg38) -
Published as PCDHA2(NM_018905.2):c.1388T>G (p.(Phe463Cys))
ISCN -
DB-ID PCDHA1_000067
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) Retrieve
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.-130541T>G r.(?) p.(=)
PCDHAC2 NM_018899.5 -?/. - c.-170415T>G r.(?) p.(=)
PCDHA1 NM_018900.2 -?/. - c.2394+7668T>G r.(=) p.(=)
PCDHA10 NM_018901.2 -?/. - c.-59697T>G r.(?) p.(=)
PCDHA11 NM_018902.3 -?/. - c.-72752T>G r.(?) p.(=)
PCDHA12 NM_018903.2 -?/. - c.-79121T>G r.(?) p.(=)
PCDHA13 NM_018904.2 -?/. - c.-85917T>G r.(?) p.(=)
PCDHA2 NM_018905.2 -?/. - c.1388T>G r.(?) p.(Phe463Cys)
PCDHA3 NM_018906.2 -?/. - c.-4846T>G r.(?) p.(=)
PCDHA4 NM_018907.2 -?/. - c.-10836T>G r.(?) p.(=)
PCDHA5 NM_018908.2 -?/. - c.-25424T>G r.(?) p.(=)
PCDHA6 NM_018909.2 -?/. - c.-31740T>G r.(?) p.(=)
PCDHA7 NM_018910.2 -?/. - c.-38032T>G r.(?) p.(=)
PCDHA8 NM_018911.2 -?/. - c.-44970T>G r.(?) p.(=)
PCDHA9 NM_031857.1 -?/. - c.-52144T>G r.(?) p.(=)


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