RGD:156364503 Rat Genome Database

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Variant: RGD:156364503 -  Homo sapiens

RGD ID: 156364503
ClinVar ID: CV2342031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC127820024  TMEM80  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 695,835
GRCh38 11 695,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384408.1:c.70+13C>T
NM_001042463.3:c.8C>T
NM_001276253.2:c.8C>T
NM_001276274.2:c.8C>T
More... 		08/30/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM80
Accession:NM_174940
Location:5UTRS;INTRON

Gene Symbol:DEAF1
Accession:NM_001367390
Location:5UTRS;INTRON

Gene Symbol:TMEM80
Accession:XM_006718206
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHRYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTRGFGGEVRAKAGDETAGE
RAAEGHIRSLRPLQFYQLLPFARSAKQILALCFFPIPRFTISSP*

Gene Symbol:TMEM80
Accession:NM_001276253
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATSASQAGRPGARVDSGFLKQ*

Gene Symbol:TMEM80
Accession:NM_001276274
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHRYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTSGHGELQDSPEDPLHTPA
PERLGPPPSPAPALAEDQLGTPAIWRTQPTNHADQGRTPSLKLETCCLHG*

Gene Symbol:TMEM80
Accession:NM_001042463
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHRYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR*

Gene Symbol:DEAF1
Accession:XM_047426251
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:TMEM80
Accession:NM_001384408
Location:INTRON

Gene Symbol:DEAF1
Accession:XR_007062437
Location:INTRON;NON-CODING

Gene Symbol:DEAF1
Accession:XR_007062436
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004184967 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DEAF1 CLINVAR
  TMEM80 CLINVAR
OMIM 602635 CLINVAR
  620248 CLINVAR