Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.4633C>A
p.Pro1545Thr (Legacy AA No. 1517)
Variant Type:
Point
Domain:
d5a3
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4633C>A
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: 653984NA
c.4634C>T
p.Pro1545Leu (Legacy AA No. 1517)
Variant Type:
Point
Domain:
d5a3
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4634C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
5
Allele Number *:
251176
Allele Frequency *:
0.00002
References and Comments:
NCBI Clinvar Variation ID: 870844NA