Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3211C>T
p.His1071Tyr (Legacy AA No. 1043)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
MIssense
Codon Change:
3211C>T
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
67
Allele Number *:
282666
Allele Frequency *:
0.000237
References and Comments:
NCBI Clinvar Variation ID: 293614NA