Search Results: 2 unique variants retrieved
c.6685C>T
p.(Leu2229Phe) (Legacy AA No.2210)
Variant Type:
Point
Domain:
C2
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
17
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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|---|---|---|---|---|---|---|---|---|---|---|
c.6686T>C
p.(Leu2229Pro) (Legacy AA No.2210)
Variant Type:
Point
Domain:
C2
Sequence Context:
CTT > CCT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
13
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|