RGD:14720953 Rat Genome Database

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Variant: RGD:14720953 -  Homo sapiens

RGD ID: 14720953
RS ID: rs1174214039
ClinVar ID: CV643812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LITAF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 11,643,555
GRCh38 16 11,549,699
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_253t1:c.*63C>T
NM_001136473.1:c.*63C>T
LRG_253:g.42252C>T
NG_009008.1:g.42252C>T
More... 		08/15/2018 3 prime utr variant uncertain significance 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:NM_001136473
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_006720983
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDAL*DVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_011522754
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDAL*DVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434927
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDAL*DVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434926
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDAL*DVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_006720982
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDAL*DVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:NM_001136472
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDAL*DVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720984
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDAL*DVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:NM_004862
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDAL*DVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_047434929
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDAL*DVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434928
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDAL*DVDHYCPNCRALLGTYKRL*

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 RCV000813243 CLINVAR
dbSNP (RS) rs1174214039 CLINVAR
MedGen C0270913 CLINVAR
NCBI Gene LITAF CLINVAR
OMIM 601098 CLINVAR
  603795 CLINVAR
SNOMED CT 4183003 CLINVAR