Variant #0000090693 (NC_000002.11:g.62066572G>A, NM_001201543.1:c.1567C>T (FAM161A))
Individual ID |
00059946 |
Chromosome |
2 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62066572G>A |
DNA change (hg38) |
g.61839437G>A |
Published as |
visita |
ISCN |
- |
DB-ID |
FAM161A_000016 See all 20 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
5.0E-5 View details |
Owner |
Jacopo Celli |
Database submission license |
No license selected |
Created by |
Jacopo Celli |
Date created |
2010-12-01 16:21:22 +01:00 (CET) |
Date last edited |
2020-09-04 12:52:00 +02:00 (CEST) |

Variant on transcripts
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