Variant #0000300655 (NC_000005.9:g.140181513G>A, NC_000005.9(NM_018900.2):c.2394+13244G>A (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.140181513G>A
DNA change (hg38) -
Published as PCDHA3(NM_018906.3):c.731G>A (p.R244K)
ISCN -
DB-ID PCDHA1_000006
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDHAC1 NM_018898.3 -?/. - c.-124965G>A r.(?) p.(=)
PCDHAC2 NM_018899.5 -?/. - c.-164839G>A r.(?) p.(=)
PCDHA1 NM_018900.2 -?/. - c.2394+13244G>A r.(=) p.(=)
PCDHA10 NM_018901.2 -?/. - c.-54121G>A r.(?) p.(=)
PCDHA11 NM_018902.3 -?/. - c.-67176G>A r.(?) p.(=)
PCDHA12 NM_018903.2 -?/. - c.-73545G>A r.(?) p.(=)
PCDHA13 NM_018904.2 -?/. - c.-80341G>A r.(?) p.(=)
PCDHA2 NM_018905.2 -?/. - c.2388+4576G>A r.(=) p.(=)
PCDHA3 NM_018906.2 -?/. - c.731G>A r.(?) p.(Arg244Lys)
PCDHA4 NM_018907.2 -?/. - c.-5260G>A r.(?) p.(=)
PCDHA5 NM_018908.2 -?/. - c.-19848G>A r.(?) p.(=)
PCDHA6 NM_018909.2 -?/. - c.-26164G>A r.(?) p.(=)
PCDHA7 NM_018910.2 -?/. - c.-32456G>A r.(?) p.(=)
PCDHA8 NM_018911.2 -?/. - c.-39394G>A r.(?) p.(=)
PCDHA9 NM_031857.1 -?/. - c.-46568G>A r.(?) p.(=)


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