Variant #0000734127 (NC_000005.9:g.94860194G>C, NM_014639.3:c.1427C>G (TTC37))
Individual ID |
00334344 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94860194G>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
TTC37_000042 See all 16 reported entries |
Variant remarks |
- |
Reference |
PubMed: Luo 2021, Journal: Luo 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00313 View details |
Owner |
Liu Wenbing |
Database submission license |
No license selected |
Created by |
Liu Wenbing |
Date created |
2021-02-28 03:11:01 +01:00 (CET) |
Date last edited |
2022-05-26 13:18:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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