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rs1060505041

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Make rs1060505041(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position13136099
GeneNACC1
is asnp
is mentioned by
dbSNPrs1060505041
dbSNP (old)rs1060505041
ClinGenrs1060505041
ebirs1060505041
HLIrs1060505041
Exacrs1060505041
Gnomadrs1060505041
Varsomers1060505041
Maprs1060505041
PheGenIrs1060505041
Biobankrs1060505041
1000 genomesrs1060505041
hgdprs1060505041
ensemblrs1060505041
gopubmedrs1060505041
geneviewrs1060505041
scholarrs1060505041
googlers1060505041
pharmgkbrs1060505041
gwascentralrs1060505041
openSNPrs1060505041
23andMers1060505041
23andMe allrs1060505041
SNPshotrs1060505041
SNPdbers1060505041
MSV3drs1060505041
GWAS Ctlgrs1060505041
Max Magnitude8

aka c.892C>T (p.Arg298Trp)

A very rare mutation; seven children worldwide are known to carry this mutation and the associated neurodevelopmental disorder involving epilepsy, cataracts, feeding difficulties, and delayed brain myelination.[PMID 28132692OA-icon.png]

Several 2017 articles in the popular press can be found about the search for this mutation, based on the story of parents Jamie Mills & Liz Aronin and their son, Quinn Mills.


ClinVar
Risk rs1060505041(T;T)
Alt rs1060505041(T;T)
Reference Rs1060505041(C;C)
Significance Pathogenic
Disease Neurodevelopmental disorder with epilepsy
Variation info
Gene NACC1
CLNDBN Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Reversed 0
HGVS NC_000019.9:g.13246913C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477683.1,