RGD:12837860 Rat Genome Database

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Variant: RGD:12837860 -  Homo sapiens

RGD ID: 12837860
RS ID: rs112192052
ClinVar ID: CV374598
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LITAF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 11,650,542
GRCh38 16 11,556,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004862.3:c.45A>G
LRG_253t1:c.45A>G
NM_001136473.1:c.45A>G
LRG_253:g.35265A>G
More... 		02/04/2019 non-coding transcript variant|synonymous variant likely benign AllHighlyPenetrant; Charcot-Marie-Tooth disease, demyelinating, Type 1C; Charcot-Marie-Tooth disease, type IC; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C; CMT 1C; CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LITAF
Accession:XM_047434927
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:NM_004862
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_047434928
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434929
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_006720984
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:NM_001136473
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGQECSGTIVALRSFDLLGSCNPPSSAS*

Gene Symbol:LITAF
Accession:NM_001136472
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720982
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_011522754
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434926
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_006720983
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:NR_024320
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425900 CLINVAR
  RCV000868789 CLINVAR
  RCV002339005 CLINVAR
dbSNP (RS) rs112192052 CLINVAR
MedGen C0270913 CLINVAR
  C0950123 CLINVAR
  CN169374 CLINVAR
NCBI Gene LITAF CLINVAR
OMIM 601098 CLINVAR
  603795 CLINVAR
SNOMED CT 4183003 CLINVAR