Variant #0000333156 (NC_000023.10:g.11187695C>T, ARHGAP6(NM_013427.2):c.1739G>A)

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.11187695C>T
DNA change (hg38) g.11169575C>T
Published as ARHGAP6(NM_006125.2):c.1739G>A (p.(Arg580Gln)), ARHGAP6(NM_013427.2):c.1739G>A (p.R580Q)
ISCN -
DB-ID ARHGAP6_000022 See all 2 reported entries
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGAP6 NM_013427.2 ?/. - c.1739G>A r.(?) p.(Arg580Gln)
AMELX NM_182680.1 ?/. - c.-123906C>T r.(?) p.(=)