Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2105C>T
p.Thr702Ile (Legacy AA No. 674)
Variant Type:
Point
Domain:
d5a2
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2105C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
982
Allele Number *:
282324
Allele Frequency *:
0.003478
References and Comments:
NCBI Clinvar Variation ID: 783954NA