Variant #0000305136 (NC_000005.9:g.140263140C>T, NC_000005.9(NM_018900.2):c.2394+94871C>T (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.140263140C>T
DNA change (hg38) -
Published as PCDHA13(NM_018904.3):c.1287C>T (p.D429=)
ISCN -
DB-ID PCDHA1_000026
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +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.-43338C>T r.(?) p.(=)
PCDHAC2 NM_018899.5 -?/. - c.-83212C>T r.(?) p.(=)
PCDHA1 NM_018900.2 -?/. - c.2394+94871C>T r.(=) p.(=)
PCDHA10 NM_018901.2 -?/. - c.2388+25119C>T r.(=) p.(=)
PCDHA11 NM_018902.3 -?/. - c.2391+12061C>T r.(=) p.(=)
PCDHA12 NM_018903.2 -?/. - c.2367+5716C>T r.(=) p.(=)
PCDHA13 NM_018904.2 -?/. - c.1287C>T r.(?) p.(Asp429=)
PCDHA2 NM_018905.2 -?/. - c.2388+86203C>T r.(=) p.(=)
PCDHA3 NM_018906.2 -?/. - c.2394+79964C>T r.(=) p.(=)
PCDHA4 NM_018907.2 -?/. - c.2385+73983C>T r.(=) p.(=)
PCDHA5 NM_018908.2 -?/. - c.2352+59428C>T r.(=) p.(=)
PCDHA6 NM_018909.2 -?/. - c.2394+53070C>T r.(=) p.(=)
PCDHA7 NM_018910.2 -?/. - c.2355+46817C>T r.(=) p.(=)
PCDHA8 NM_018911.2 -?/. - c.2394+39840C>T r.(=) p.(=)
PCDHA9 NM_031857.1 -?/. - c.2394+32666C>T r.(=) p.(=)


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