Variant #0000659207 (NC_000023.10:g.153608099G>A, NM_000117.2:c.132G>A (EMD))

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153608099G>A
DNA change (hg38) g.154379739G>A
Published as EMD(NM_000117.3):c.132G>A (p.Q44=)
ISCN -
DB-ID EMD_000182
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EMD NM_000117.2 -/. - c.132G>A r.(?) p.(Gln44=)


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