RGD:10768255 Rat Genome Database

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Variant: RGD:10768255 -  Homo sapiens

RGD ID: 10768255
RS ID: rs139116481
ClinVar ID: CV222444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LITAF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 11,647,436
GRCh38 16 11,553,580
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NP_004853.2:p.Asn110=
LRG_253t1:c.330C>T
NM_001136473.1:c.330C>T
LRG_253:g.38371C>T
More... 		03/05/2019 non-coding transcript variant|synonymous variant benign|likely benign|uncertain significance childhood <1 / 1 000 000 AllHighlyPenetrant; Charcot-Marie-Tooth disease, demyelinating, Type 1C; Charcot-Marie-Tooth disease, type IC; Charcot-Marie-Tooth Neuropathy; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C; CMT 1C; CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LITAF
Accession:XM_047434927
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:NM_004862
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720983
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_047434928
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:NM_001136473
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGQECSGTIVALRSFDLLGSCNPPSSAS*

Gene Symbol:LITAF
Accession:XM_006720984
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720982
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_047434929
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_011522754
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434926
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:NM_001136472
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 110
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:15776429   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000206100 CLINVAR
  RCV000429066 CLINVAR
  RCV001174238 CLINVAR
  RCV001711611 CLINVAR
  RCV002321804 CLINVAR
dbSNP (RS) rs139116481 CLINVAR
MedGen C0007959 CLINVAR
  C0270913 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LITAF CLINVAR
OMIM 601098 CLINVAR
  603795 CLINVAR
SNOMED CT 4183003 CLINVAR
  50548001 CLINVAR