RGD:14742624 Rat Genome Database

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Variant: RGD:14742624 -  Homo sapiens

RGD ID: 14742624
RS ID: rs768378051
ClinVar ID: CV655872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC113788297  NDUFAF6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 96,037,294
GRCh38 8 95,025,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354531.2:c.-621C>T
NM_001354530.2:c.-625C>T
NM_001354532.2:c.-629C>T
NM_001354528.2:c.-711C>T
More... 		09/04/2021 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFAF6
Accession:NM_001330582
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354527
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354528
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354529
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354531
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354532
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354521
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354533
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354519
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354530
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354517
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354518
Location:5UTRS;EXON

Gene Symbol:NDUFAF6
Accession:NM_001354514
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354524
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354534
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354525
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354515
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_001354522
Location:5UTRS;INTRON

Gene Symbol:NDUFAF6
Accession:NM_152416
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLP
AESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDERE
KNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLL
PLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NR_148914
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148911
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148910
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148915
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148913
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148912
Location:EXON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NM_001354516
Location:INTRON

Gene Symbol:NDUFAF6
Accession:NR_148908
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148903
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148906
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148907
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148905
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148909
Location:INTRON;NON-CODING

Gene Symbol:NDUFAF6
Accession:NR_148904
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000841522 CLINVAR
dbSNP (RS) rs768378051 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 113788297 CLINVAR
  NDUFAF6 CLINVAR
OMIM 612392 CLINVAR