Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5431A>T
p.Met1811Leu (Legacy AA No. 1783)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5431A>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
208
Allele Number *:
282210
Allele Frequency *:
0.000737
References and Comments:
NCBI Clinvar Variation ID: 873864NA