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  Search Results: 3 unique variants retrieved



  c.305_306insCTGAGATTTATGTTCTTA
p.(Val103*) (Legacy AA No.84)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
No of bases:
18
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 3

Individual Case Information : Show


  c.308T>C
p.(Val103Ala) (Legacy AA No.84)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.308T>A
p.(Val103Glu) (Legacy AA No.84)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GAG
Variant Effect:
Missense
Location:
Exon 3
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