Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6164G>A
p.Arg2055Gln (Legacy AA No. 2027)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 22
Variant Effect:
Missense
Codon Change:
6164G>A
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 293576NA