RGD:10042960 Rat Genome Database

Variant: RGD:10042960 - Homo sapiens

RGD ID:

10042960

RS ID:

rs767568897

ClinVar ID:

CV187695

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LIPT1 MITD1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	99,778,632
GRCh38	2	99,162,169

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000002.12:g.99162169C>T NC_000002.11:g.99778632C>T NP_057013.1:p.Ser71Phe NP_001191759.1:p.Ser71Phe More...	04/01/2020	missense variant	pathogenic\|likely pathogenic\|not provided	neonatal	<1 / 1 000 000	Lipoyltransferase 1 deficiency; none provided

Disease Annotations Click to see Annotation Detail View

Lipoyltransferase 1 Deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	LIPT1
Accession:	NM_145197
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPFVVIGRHQNP WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:	LIPT1
Accession:	NM_145198
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPFVVIGRHQNP WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:	LIPT1
Accession:	NM_015929
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPFVVIGRHQNP WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:	LIPT1
Accession:	NM_145199
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPFVVIGRHQNP WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:	LIPT1
Accession:	NM_001204830
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPFVVIGRHQNP WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:	LIPT1
Accession:	NR_037936
Location:	EXON;NON-CODING

Gene Symbol:	LIPT1
Accession:	NR_037935
Location:	EXON;NON-CODING

Gene Symbol:	MITD1
Accession:	NM_138798
Location:	INTRON

Gene Symbol:	MITD1
Accession:	XM_011510581
Location:	INTRON

Gene Symbol:	MITD1
Accession:	NM_001320419
Location:	INTRON

Gene Symbol:	MITD1
Accession:	NM_001320418
Location:	INTRON

Gene Symbol:	MITD1
Accession:	NM_001320417
Location:	INTRON

Gene Symbol:	MITD1
Accession:	XM_017003314
Location:	INTRON

Gene Symbol:	MITD1
Accession:	XM_017003315
Location:	INTRON

Gene Symbol:	MITD1
Accession:	XM_047443276
Location:	INTRON

Gene Symbol:	MITD1
Accession:	XM_047443277
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24256811	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000170326	CLINVAR
	RCV001551057	CLINVAR
dbSNP (RS)	rs767568897	CLINVAR
MedGen	C4225379	CLINVAR
	CN517202	CLINVAR
NCBI Gene	LIPT1	CLINVAR
	MITD1	CLINVAR
OMIM	610284	CLINVAR
	616299	CLINVAR
OMIM Allele	610284.0003	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:10042960 - Homo sapiens

Imported Disease Annotations - ClinVar