RGD:401877632 Rat Genome Database

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Variant: RGD:401877632 -  Homo sapiens

RGD ID: 401877632
ClinVar ID: CV2761237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFHB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 19,921,295
GRCh38 3 19,879,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001330688.2:c.1940T>C
NM_144715.4:c.2330T>C
NC_000003.12:g.19879803A>G
NC_000003.11:g.19921295A>G
More... 		08/22/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:EFHB
Accession:NM_144715
Location:EXON

Gene Symbol:EFHB
Accession:XM_005264889
Location:EXON

Gene Symbol:EFHB
Accession:XM_011533382
Location:EXON

Gene Symbol:EFHB
Accession:XM_011533385
Location:EXON

Gene Symbol:EFHB
Accession:NM_001330688
Location:EXON

Gene Symbol:EFHB
Accession:XM_017005742
Location:INTRON

Gene Symbol:EFHB
Accession:XR_940383
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004341115 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EFHB CLINVAR