RGD:13464816 Rat Genome Database

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Variant: RGD:13464816 -  Homo sapiens

RGD ID: 13464816
RS ID: rs1554548334
ClinVar ID: CV458625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 75,276,228
GRCh38 8 74,363,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362929.2:c.376C>T
NM_001362931.2:c.694+940C>T
NM_018972.4:c.703C>T
NP_001349858.1:p.Gln126Ter
More... 		08/28/2018 intron variant|nonsense pathogenic Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-Marie-Tooth Neuropathy Type 4A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDAP1
Accession:NM_001040875
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV
DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNE
ETPEEG*QPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA
FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_047421902
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEG*QPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362932
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEG*QPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362930
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ
VETELQRRNEETPEEG*QPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN
ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_018972
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEG*QPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL
GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362929
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEG*QPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362931
Location:INTRON

Gene Symbol:GDAP1
Accession:XM_017013586
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12499475   PMID:28492532   PMID:28751717  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000542442 CLINVAR
dbSNP (RS) rs1554548334 CLINVAR
MedGen C1859198 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 214400 CLINVAR
  606598 CLINVAR