Search Results: 2 unique variants retrieved
c.1132G>T
p.(Asp378Tyr) (332)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1132
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1134_1135delCCinsAACTCTAA
p.(Asp378_Arg379delinsGluThrLe) (332)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1134
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
2/8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Inframe) of variant at Exon 8.
Individual Case Information :
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