Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2752C>T
p.Pro918Ser (Legacy AA No. 890)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2752C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
44
Allele Number *:
282358
Allele Frequency *:
0.000156
References and Comments:
NCBI Clinvar Variation ID: 1136361NA