Search Results: 2 unique variants retrieved
c.6775G>T
p.(Val2259Phe) (Legacy AA No.2240)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.6776T>A
p.(Val2259Asp) (Legacy AA No.2240)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show