Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5365C>T
p.Arg1789* (Legacy AA No. 1761)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Nonsense
Codon Change:
5365C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
5
Allele Number *:
251058
Allele Frequency *:
0.00002
References and Comments:
NCBI Clinvar Variation ID: 627332NA