Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2345A>C
p.Asn782Thr (Legacy AA No. 754)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2345A>C
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: 1313877NA