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  Search Results: 1 unique variant retrieved.



  c.4114A>G
p.(Thr1372Ala) (Legacy AA No.1353)
Variant Type:
Point
Domain:
B
Sequence Context:
Variant Effect:
Missense
Location:
Exon 14
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 14

Individual Case Information : Show