Data Display Options:

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

  Search Results: 3 unique variants retrieved



  c.5096A>G
p.(Tyr1699Cys) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.5096A>T
p.(Tyr1699Phe) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TTT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
72
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.5096A>C
p.(Tyr1699Ser) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
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