Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5534A>G
p.His1845Arg (Legacy AA No. 1817)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5534A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
22
Allele Number *:
282384
Allele Frequency *:
0.000078
References and Comments:
NCBI Clinvar Variation ID: 293581NA