In Depth Variant Analysis: c.1135+5G>A ()
Terms with a '*' next to them are explained on the Help Page .
c.1135+5G>A
(Legacy AA No. 360)
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
6
Allele Number *:
281714
Allele Frequency *:
0.000021
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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