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  Search Results: 3 unique variants retrieved



  c.1897A>G
p.(Met633Val) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 12

Individual Case Information : Show


  c.1898T>C
p.(Met633Thr) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 12
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.1899G>T
p.(Met633Ile) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATT
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show