Variant #0000683287 (NC_000004.11:g.178359903C>T, AGA(NM_000027.3):c.503G>A)
Individual ID |
00307713 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.178359903C>T |
DNA change (hg38) |
g.177438749C>T |
Published as |
- |
ISCN |
- |
DB-ID |
AGA_000018 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Grozeva 2015, Journal: Grozeva 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
2.0E-5 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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