RGD:15102339 Rat Genome Database

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Variant: RGD:15102339 -  Homo sapiens

RGD ID: 15102339
RS ID: rs748118642
ClinVar ID: CV688521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LITAF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 11,643,568
GRCh38 16 11,549,712
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136472.2:c.411C>T
NM_004862.4:c.411C>T
NP_004853.2:p.Cys137=
NG_009008.1:g.42239C>T
More...
11/27/2019 3 prime utr variant likely benign 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:NM_001136472
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:NM_004862
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720982
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720984
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_006720983
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPNNNPITVQTVY
VQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKR
L*

Gene Symbol:LITAF
Accession:XM_011522754
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434928
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434929
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434927
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

Gene Symbol:LITAF
Accession:XM_047434926
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFVNCHGAGGSVAVRKTRVRPRRRLGFGKMSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTG
PDGKGMNPPSYYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAG
CCFIPFCVDALQDVDHYCPNCRALLGTYKRL*

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 RCV000870440 CLINVAR
dbSNP (RS) rs748118642 CLINVAR
MedGen C0270913 CLINVAR
NCBI Gene LITAF CLINVAR
OMIM 601098 CLINVAR
  603795 CLINVAR
SNOMED CT 4183003 CLINVAR