Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.361T>C
p.Cys121Arg (Legacy AA No. 81)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
T>C
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
2
Allele Number *:
251206
Allele Frequency *:
0.000008
References and Comments:
Jin et al 2018Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.
c.362G>A
p.Cys121Tyr (Legacy AA No. 81)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Peyvandi et al 2002Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.