Variant #0000651440 (NC_000004.11:g.178359970A>C, AGA(NM_000027.3):c.436T>G)
Individual ID |
00293583 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.178359970A>C |
DNA change (hg38) |
g.177438816A>C |
Published as |
- |
ISCN |
- |
DB-ID |
AGA_000051 See all 2 reported entries |
Variant remarks |
conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs146381591 |
Origin |
Germline |
Segregation |
- |
Frequency |
3/2794 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00099 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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