Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4082C>T
p.Pro1361Leu (Legacy AA No. 1333)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4082C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
2
Allele Number *:
244386
Allele Frequency *:
0.000008
References and Comments:
NCBI Clinvar Variation ID: 874095NA