Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.437G>A
p.Arg146Gln (Legacy AA No. 118)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
437G>A
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
31
Allele Number *:
282724
Allele Frequency *:
0.00011
References and Comments:
NCBI Clinvar Variation ID: 293640NA