Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4172T>C
p.Met1391Thr (Legacy AA No. 1363)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4172T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
3
Allele Number *:
250804
Allele Frequency *:
0.000012
References and Comments:
NCBI Clinvar Variation ID: 875897NA