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  Search Results: 3 unique variants retrieved



  c.6010A>C
p.(Thr2004Pro) (Legacy AA No.1985)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > CCA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6011C>T
p.(Thr2004Ile) (Legacy AA No.1985)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > ATA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6011C>G
p.(Thr2004Arg) (Legacy AA No.1985)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > AGA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
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