Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5219T>G
p.Ile1740Ser (Legacy AA No. 1712)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 15
Variant Effect:
Missense
Codon Change:
5219T>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 1315402NA