RGD:15197001 Rat Genome Database

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Variant: RGD:15197001 -  Homo sapiens

RGD ID: 15197001
RS ID: rs751281684
ClinVar ID: CV766216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LFNG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 2,566,535
GRCh38 7 2,526,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002304.3:c.666G>A
NM_001166355.2:c.840G>A
NM_001040167.2:c.1053G>A
NM_001040168.2:c.1053G>A
More... 		06/27/2018 synonymous variant likely benign Spondylocostal dysostosis 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LFNG
Accession:NM_001166355
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEQTGRLRLDTYCMSAKQIWAWSKCSGRLWDEHMKWMEGWTDRWTDGWMDGWMDEWSPTPALRSYGGGLSQQTFIFTDG
EDEALARHTGNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLD
RPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLF
HSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF*

Gene Symbol:LFNG
Accession:NM_002304
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGRCCLAADIQVETFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRA
LLRLLASYPHTRDVYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPD
DCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPD
TPWCPRTAIF*

Gene Symbol:LFNG
Accession:NM_001040168
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSL
LTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHT
GNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERV
SENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQ
VPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRWGN*

Gene Symbol:LFNG
Accession:NM_001040167
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSL
LTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHT
GNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERV
SENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQ
VPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003505147 CLINVAR
dbSNP (RS) rs751281684 CLINVAR
MedGen C1853296 CLINVAR
NCBI Gene LFNG CLINVAR
OMIM 602576 CLINVAR
  609813 CLINVAR