Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4333A>G
p.Thr1445Ala (Legacy AA No. 1417)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4333A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
42
Allele Number *:
250546
Allele Frequency *:
0.000168
References and Comments:
NCBI Clinvar Variation ID: 293597NA