RGD:156358477 Rat Genome Database

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Variant: RGD:156358477 -  Homo sapiens

RGD ID: 156358477
ClinVar ID: CV1897789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYCC1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 23,015,940
GRCh38 7 22,976,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363466.2:c.531-16T>G
NM_001363467.2:c.531-16T>G
NM_032581.4:c.531-16T>G
NG_008392.2:g.42809T>G
More... 		04/24/2022 intron variant likely benign LEUKODYSTROPHY, HYPOMYELINATING, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HYCC1
Accession:NM_032581
Location:INTRON

Gene Symbol:HYCC1
Accession:XM_011515590
Location:INTRON

Gene Symbol:HYCC1
Accession:NM_001363466
Location:INTRON

Gene Symbol:HYCC1
Accession:XM_011515589
Location:INTRON

Gene Symbol:HYCC1
Accession:NM_001363467
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002602331 CLINVAR
MedGen C1864663 CLINVAR
NCBI Gene HYCC1 CLINVAR
OMIM 610531 CLINVAR
  610532 CLINVAR
SNOMED CT 702379005 CLINVAR