Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6401C>T
p.Thr2134Met (Legacy AA No. 2106)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 24
Variant Effect:
Missense
Codon Change:
6401C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
61
Allele Number *:
282186
Allele Frequency *:
0.000216
References and Comments:
NCBI Clinvar Variation ID: 1049414NA