Search Results: 2 unique variants retrieved
c.580G>A
p.(Ala194Thr) (148)
Variant Type:
Polymorphism
Domain:
Act-Peptide
cDNA number:
580
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.580A>G
p.(Thr194Ala) (148)
Variant Type:
Polymorphism
Domain:
Act-Peptide
cDNA number:
580
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Polymorphism | Silent) of variant at Exon 6.
Individual Case Information :
Show