Variant #0000411308 (NC_000019.9:g.1401417dup, GAMT(NM_000156.5):c.64dup)
Individual ID |
00184753 |
Chromosome |
19 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1401417dup |
DNA change (hg38) |
g.1401418dup |
Published as |
64dupG |
ISCN |
- |
DB-ID |
GAMT_012045 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: Item 2004 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Gajja Salomons |
Database submission license |
No license selected |
Created by |
Gajja Salomons |

Variant on transcripts
Screenings
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