Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5729C>T
p.Pro1910Leu (Legacy AA No. 1882)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 19
Variant Effect:
Missense
Codon Change:
5729C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
6
Allele Number *:
250856
Allele Frequency *:
0.000024
References and Comments:
NCBI Clinvar Variation ID: 876651NA