Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5933C>T
p.Thr1978Ile (Legacy AA No. 1950)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 21
Variant Effect:
Missense
Codon Change:
5933C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
1
Allele Number *:
251218
Allele Frequency *:
0.000004
References and Comments:
NCBI Clinvar Variation ID: 873758NA