Data Display Options:

UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :

  Search Results: 4 unique variants retrieved



  c.1639T>C
p.(Cys547Arg) (Legacy AA No.528)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1640G>T
p.(Cys547Phe) (Legacy AA No.528)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1640G>A
p.(Cys547Tyr) (Legacy AA No.528)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.1641C>G
p.(Cys547Trp) (Legacy AA No.528)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show