Variant #0000524704 (NC_000005.9:g.14741965T>C, ANKH(NM_054027.4):c.982A>G)

Chromosome 5
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.14741965T>C
DNA change (hg38) g.14741856T>C
Published as ANKH(NM_054027.6):c.982A>G (p.T328A)
ISCN -
DB-ID ANKH_000019
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANKH NM_054027.4 ?/. - c.982A>G r.(?) p.(Thr328Ala)