RGD:13529122 Rat Genome Database

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Variant: RGD:13529122 -  Homo sapiens

RGD ID: 13529122
RS ID: rs762620949
ClinVar ID: CV513584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 96,060,689
GRCh38 8 95,048,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001341450.1:p.Gly148Val
NP_001341460.1:p.Gly88Val
NP_001341461.1:p.Gly88Val
NP_001341462.1:p.Gly88Val
More... 		05/03/2020 missense variant likely pathogenic|uncertain significance Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View
Leigh disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NDUFAF6
Accession:NM_001354514
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

Gene Symbol:NDUFAF6
Accession:NM_001354534
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLE
ILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLK
HEIKDADTQGVCLAQPASLGK*

Gene Symbol:NDUFAF6
Accession:NM_001354515
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

Gene Symbol:NDUFAF6
Accession:NM_001330582
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKT
Y*

Gene Symbol:NDUFAF6
Accession:NM_001354525
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354532
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354530
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354517
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLE
ILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLK
HARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354529
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354531
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354533
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354516
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPISISHSSWLVQRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQ
PVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQG
IVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTV
SLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354521
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNWLRLVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIK
ELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQD
KNVRDVIYDIASQAHLHLKHVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_152416
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLP
AESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDERE
KNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHV
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLL
PLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354522
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354518
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLE
ILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLK
HARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354519
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLE
ILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLK
HARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354524
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354527
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NM_001354528
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLP
MDICMLHVVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPS
LQQKNTLLPLYLYIQSWRKTY*

Gene Symbol:NDUFAF6
Accession:NR_148914
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:NR_148915
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_148905
Location:INTRON;NON-CODING

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

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

Gene Symbol:NDUFAF6
Accession:NR_148904
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_148909
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000626222 CLINVAR
dbSNP (RS) rs762620949 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene NDUFAF6 CLINVAR
OMIM 256000 CLINVAR
  612392 CLINVAR
SNOMED CT 29570005 CLINVAR