Variant #0000984852 (NC_000023.10:g.7177435G>C, NM_001320752.2:c.428G>C (STS))

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.7177435G>C
DNA change (hg38) -
Published as STS(NM_001320752.2):c.428G>C (p.(Cys143Ser))
ISCN -
DB-ID HDHD1_000012
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STS NM_001320752.2 ?/. - c.428G>C r.(?) p.(Cys143Ser)
HDHD1 NM_012080.4 ?/. - c.-111281C>G r.(?) p.(=)


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