RGD:156257090 Rat Genome Database

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Variant: RGD:156257090 -  Homo sapiens

RGD ID: 156257090
ClinVar ID: CV2369299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  TMEM80  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 700,638
GRCh38 11 700,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367390.1:c.-438+5934G>A
NM_001276253.2:c.110+426C>T
NM_001042463.3:c.157C>T
NM_001276274.2:c.157C>T
More... 		07/06/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:NM_001367390
Location:5UTRS;INTRON

Gene Symbol:TMEM80
Accession:NM_001276274
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHCYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTSGHGELQDSPEDPLHTPA
PERLGPPPSPAPALAEDQLGTPAIWRTQPTNHADQGRTPSLKLETCCLHG*

Gene Symbol:TMEM80
Accession:XM_006718206
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHCYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTRGFGGEVRAKAGDETAGE
RAAEGHIRSLRPLQFYQLLPFARSAKQILALCFFPIPRFTISSP*

Gene Symbol:TMEM80
Accession:NM_001384408
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGARARGPRGCRDRDGPAGGAGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHCYLVLDLALLF
LMGILEAVRLYLGTRGNLTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR
GFGGEVRAKAGDETAGERAAEGHIRSLRPLQFYQLLPFARSAKQILALCFFPIPRFTISSP*

Gene Symbol:TMEM80
Accession:NM_001042463
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKSQVFSYPHCYLVLDLALLFLMGILEAVRLYLGTRGN
LTEAERPLAASLALTAGTALLSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR*

Gene Symbol:TMEM80
Accession:NM_174940
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFYLSGTYYALYFLATLLMITYKSQVFSYPHCYLVLDLALLFLMGILEAVRLYLGTRGNLTEAERPLAASLALTAGTAL
LSAHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR*

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

Gene Symbol:TMEM80
Accession:NM_001276253
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_021008
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:NM_001293634
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426251
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
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 RCV004208211 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DEAF1 CLINVAR
  TMEM80 CLINVAR
OMIM 602635 CLINVAR
  620248 CLINVAR