Variant #0000866989 (NC_000023.10:g.11197467G>A, ARHGAP6(NM_013427.2):c.1435C>T)

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.11197467G>A
DNA change (hg38) -
Published as ARHGAP6(NM_013427.2):c.1435C>T (p.P479S)
ISCN -
DB-ID ARHGAP6_000052
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGAP6 NM_013427.2 ?/. - c.1435C>T r.(?) p.(Pro479Ser)
AMELX NM_182680.1 ?/. - c.-114134G>A r.(?) p.(=)