RGD:405734839 Rat Genome Database

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Variant: RGD:405734839 -  Homo sapiens

RGD ID: 405734839
ClinVar ID: CV3309490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHPN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 144,457,837
GRCh38 8 143,375,667
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052924.3:c.175A>G
NC_000008.11:g.143375667A>G
NC_000008.10:g.144457837A>G
NM_052924.2:c.175A>G
More... 		01/22/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RHPN1
Accession:XM_047421316
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421322
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421321
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421318
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421317
Location:EXON

Gene Symbol:RHPN1
Accession:NM_052924
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421320
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421315
Location:EXON

Gene Symbol:RHPN1
Accession:XM_005250772
Location:EXON

Gene Symbol:RHPN1
Accession:XM_017013015
Location:EXON

Gene Symbol:RHPN1
Accession:XM_047421319
Location:EXON

Gene Symbol:RHPN1
Accession:XM_005250773
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004451496 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RHPN1 CLINVAR
OMIM 601031 CLINVAR