RGD:401752597 Rat Genome Database

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Variant: RGD:401752597 -  Homo sapiens

RGD ID: 401752597
ClinVar ID: CV2682873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHFPL1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 111,914,342
GRCh38 X 112,671,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178175.4:c.277G>T
NG_012629.1:g.14034G>T
NC_000023.11:g.112671114C>A
NC_000023.10:g.111914342C>A
More... 		05/18/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LHFPL1
Accession:XM_017029485
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTYCIWCCDPTHLPIPAEKPVTMRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGE
GHSLIMVEECGRYASFNAIPSLAWQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGLLISSGCAL
YPLGWNSPEIMQTCGNVSNQFQLGTCRLGWAYYCAGGGAAAAMLICTWLSCFAGRNPKPVILVESIMRNTNSYAMELDHC
LKP*

Gene Symbol:LHFPL1
Accession:XM_024452370
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTYCIWCCDPTHLPIPAEKPVTMRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGE
GHSLIMVEECGRYASFNAIPSLAWQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGLLISSGCAL
YPLGWNSPEIMQTCGNVSNQFQLDPDENVPEICLGLF*

Gene Symbol:LHFPL1
Accession:XM_011530946
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGEGHSLIMVEECGRYASFNAIPSLA
WQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGTCRLGWAYYCAGGGAAAAMLICTWLSCFAGRN
PKPVILVESIMRNTNSYAMELDHCLKP*

Gene Symbol:LHFPL1
Accession:XM_011530943
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTYCIWCCDPTHLPIPAEKPVTMRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGE
GHSLIMVEECGRYASFNAIPSLAWQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGLLISSGCAL
YPLGWNSPEIMQTCGNVSNQFQLGTCRLGWAYYCAGGGAAAAMLICTWLSCFAGRNPKPVILVESIMRNTNSYAMELDHC
LKP*

Gene Symbol:LHFPL1
Accession:XM_047442082
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTYCIWCCDPTHLPIPAEKPVTMRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGE
GHSLIMVEECGRYASFNAIPSLAWQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGTCRLGWAYY
CAGGGAAAAMLICTWLSCFAGRNPKPVILVESIMRNTNSYAMELDHCLKP*

Gene Symbol:LHFPL1
Accession:NM_178175
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSSLTMVGTLWAFLSLVTAVTSSTSYFLPYWLFGSQMGKPVSFSTFRRCNYPVRGEGHSLIMVEECGRYASFNAIPSLA
WQMCTVVTGAGCSLLLLVALAAVLGCCMEELISRMMGRCMGAAQFVGGLLISSGCALYPLGWNSPEIMQTCGNVSNQFQL
GTCRLGWAYYCAGGGAAAAMLICTWLSCFAGRNPKPVILVESIMRNTNSYAMELDHCLKP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004283672 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LHFPL1 CLINVAR
OMIM 300566 CLINVAR