Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5621T>C
p.Met1874Thr (Legacy AA No. 1846)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5621T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
24
Allele Number *:
282400
Allele Frequency *:
0.000085
References and Comments:
NCBI Clinvar Variation ID: 627095NA