RGD:155641822 Rat Genome Database

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Variant: RGD:155641822 -  Homo sapiens

RGD ID: 155641822
ClinVar ID: CV1706058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEFH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 29,884,835
GRCh38 22 29,488,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008404.1:g.13655C>T
NC_000022.11:g.29488846C>T
NC_000022.10:g.29884835C>T
NM_021076.4:c.1209-3C>T
03/31/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NEFH
Accession:XM_011530200
Location:INTRON

Gene Symbol:NEFH
Accession:NM_021076
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002286920 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NEFH CLINVAR
OMIM 162230 CLINVAR