rs886053462 Rat Genome Database

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Variant: rs886053462 -  Homo sapiens

RGD ID: 11663193
RS ID: rs886053462
ClinVar ID: CV346088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHBDF2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 74,467,013
GRCh38 17 76,470,931
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001005498.4:c.*702C>G
NM_001376229.1:c.*702C>G
NM_001376228.1:c.*702C>G
LRG_532t1:c.*702C>G
More... 		01/12/2018 3 prime utr variant uncertain significance adolescent <1 / 1 000 000 Howel-Evans syndrome; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER; Keratosis palmoplantaris with esophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; Tylosis with esophageal cancer
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RHBDF2
Accession:NM_001376229
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_011525251
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436746
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436750
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436753
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_011525249
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:NM_001376230
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:NM_024599
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:NM_001376228
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_005257669
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436744
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436755
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436743
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436748
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:NM_001005498
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436756
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436745
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436747
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436751
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436749
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_011525250
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:XM_047436752
Location:3UTRS;EXON

Gene Symbol:RHBDF2
Accession:NR_164786
Location:EXON;NON-CODING

Gene Symbol:RHBDF2
Accession:NR_164787
Location:EXON;NON-CODING

Gene Symbol:RHBDF2
Accession:NR_164785
Location:EXON;NON-CODING

Gene Symbol:RHBDF2
Accession:XM_047436757
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000393536 CLINVAR
dbSNP (RS) rs886053462 CLINVAR
MedGen C1835664 CLINVAR
NCBI Gene RHBDF2 CLINVAR
OMIM 148500 CLINVAR
  614404 CLINVAR