Variant #0000953630 (NC_000005.9:g.94858905C>T, NC_000005.9(NM_014639.3):c.1757+1G>A (TTC37))
Individual ID |
00444074 |
Chromosome |
5 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94858905C>T |
DNA change (hg38) |
g.95523201C>T |
Published as |
- |
ISCN |
- |
DB-ID |
TTC37_000094 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
RCV001027639.1, RCV002497347.1 |
dbSNP ID |
rs570910902 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Murat Ozturk |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Murat Ozturk |
Date created |
2023-12-13 11:37:26 +01:00 (CET) |
Date last edited |
2023-12-13 16:03:40 +01:00 (CET) |

Variant on transcripts
Screenings
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