Variant #0000619973 (NC_000023.10:g.99663042G>A, NM_001184880.1:c.554C>T (PCDH19))

Chromosome X
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.99663042G>A
DNA change (hg38) g.100408044G>A
Published as -
ISCN -
DB-ID PCDH19_000211
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH19 NM_001184880.1 ?/. - c.554C>T r.(?) p.(Ser185Phe)
PCDH19 NM_020766.2 ?/. - c.554C>T r.(?) p.(Ser185Phe)


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