RGD:126738216 Rat Genome Database

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Variant: RGD:126738216 -  Homo sapiens

RGD ID: 126738216
ClinVar ID: CV424414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 96,047,712
GRCh38 8 95,035,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354524.1:c.-322G>T
NM_001354528.1:c.-322G>T
NM_001354533.1:c.-322G>T
NM_001354527.1:c.-351G>T
More... 		04/27/2018 5 prime utr variant pathogenic Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy

Variant Details
Variant Transcripts
Gene Symbol:NDUFAF6
Accession:NM_001354531
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:NDUFAF6
Accession:NM_001330582
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

Gene Symbol:NDUFAF6
Accession:NM_152416
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLP
AESRSSVFALRAFNVELAQVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDERE
KNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLL
PLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354516
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPISISHSSWLVQRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQ
PVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQG
IVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTV
SLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354515
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

Gene Symbol:NDUFAF6
Accession:NM_001354521
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354514
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTI*LMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

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

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

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

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

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

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

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_148909
Location:INTRON;NON-CODING

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

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

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

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

Variant Samples