RGD:11660978 Rat Genome Database

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Variant: RGD:11660978 -  Homo sapiens

RGD ID: 11660978
RS ID: rs886062196
ClinVar ID: CV310591
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYCC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 22,981,165
GRCh38 7 22,941,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_032581.3:c.*4043A>G
NG_008392.1:g.77606A>G
NC_000007.14:g.22941546T>C
NC_000007.13:g.22981165T>C
More... 		01/13/2018 3 prime utr variant uncertain significance infancy <1 / 1 000 000 LEUKODYSTROPHY, HYPOMYELINATING, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HYCC1
Accession:NM_032581
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:XM_011515589
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:NM_001363467
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:NM_001363466
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:XM_011515590
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000372312 CLINVAR
dbSNP (RS) rs886062196 CLINVAR
MedGen C1864663 CLINVAR
NCBI Gene FAM126A CLINVAR
OMIM 610531 CLINVAR
  610532 CLINVAR
SNOMED CT 702379005 CLINVAR