Variant #0000577408 (NC_000023.10:g.73641569T>C, NM_006517.4:c.97T>C (SLC16A2))
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.73641569T>C |
DNA change (hg38) |
g.74421734T>C |
Published as |
SLC16A2(NM_006517.4):c.97T>C (p.S33P), SLC16A2(NM_006517.5):c.97T>C (p.S33P) |
ISCN |
- |
DB-ID |
SLC16A2_000009 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) |
0.48938 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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