Variant #0000794333 (NC_000002.11:g.112686931_112686932del, NM_006343.2:c.296_297del (MERTK))
Individual ID |
00379845 |
Chromosome |
2 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.112686931_112686932del |
DNA change (hg38) |
g.111929354_111929355del |
Published as |
NM_006343.2:c.296_297del, NP_006334.2:p.(Thr99SerfsTer8), NC_000002.11:g.112686931_112686932del |
ISCN |
- |
DB-ID |
MERTK_000154 See all 10 reported entries |
Variant remarks |
- |
Reference |
PubMed: Wang 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-08-10 08:08:19 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|