RGD:156390249 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156390249 -  Homo sapiens

RGD ID: 156390249
ClinVar ID: CV1955279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPT1  MITD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 99,778,572
GRCh38 2 99,162,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204830.2:c.152T>C
NM_015929.4:c.152T>C
NM_145197.3:c.152T>C
NM_145198.3:c.152T>C
More...
08/15/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPT1
Accession:NM_145197
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWTHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_145198
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWTHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_015929
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWTHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_145199
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWTHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_001204830
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWTHDHMNLEGKPILFFWQNSPSVVIGRHQNP
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
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002583804 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIPT1 CLINVAR
  MITD1 CLINVAR
OMIM 610284 CLINVAR