Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5941G>T
p.Ala1981Ser (Legacy AA No. 1953)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 21
Variant Effect:
Missense
Codon Change:
5941G>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 1013260NA