RGD:156290733 Rat Genome Database

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Variant: RGD:156290733 -  Homo sapiens

RGD ID: 156290733
ClinVar ID: CV2055197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIPT1  MITD1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 99,778,861
GRCh38 2 99,162,398
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.441G>T
NM_015929.4:c.441G>T
NM_145197.3:c.441G>T
NM_145198.3:c.441G>T
More... 		08/21/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LIPT1
Accession:NM_145197
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVHATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_145198
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVHATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_015929
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVHATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_145199
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVHATKRFDLLLDGQF
KISGTASKIGRTTAYHHCTLLCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFIDIKNGRIEICNIEAPDHWLP
LEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNSKWNILCEKIKGIM*

Gene Symbol:LIPT1
Accession:NM_001204830
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGKPILFFWQNSPSVVIGRHQNP
WQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTTKKKYDRMENLKLIVRALNAVQPQLDVHATKRFDLLLDGQF
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 RCV002833193 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LIPT1 CLINVAR
  MITD1 CLINVAR
OMIM 610284 CLINVAR