RGD:150475608 Rat Genome Database

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Variant: RGD:150475608 -  Homo sapiens

RGD ID: 150475608
RS ID: rs2307097
ClinVar ID: CV1216690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AVIL  TSFM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,195,801
GRCh38 12 57,802,018
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.57802018T>C
NC_000012.11:g.58195801T>C
NM_006576.4:c.2151+142A>G
NM_001172697.2:c.572-537T>C
More... 		05/10/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AVIL
Accession:XM_047428110
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428113
Location:INTRON

Gene Symbol:TSFM
Accession:NM_001172697
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428114
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428112
Location:INTRON

Gene Symbol:TSFM
Accession:NM_001172696
Location:INTRON

Gene Symbol:AVIL
Accession:NM_006576
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428117
Location:INTRON

Gene Symbol:TSFM
Accession:NM_005726
Location:INTRON

Gene Symbol:TSFM
Accession:NM_001172695
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428116
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428111
Location:INTRON

Gene Symbol:AVIL
Accession:XM_047428115
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001615983 CLINVAR
dbSNP (RS) rs2307097 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AVIL CLINVAR
  TSFM CLINVAR
OMIM 604723 CLINVAR
  613397 CLINVAR