RGD:13812351 Rat Genome Database

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Variant: RGD:13812351 -  Homo sapiens

RGD ID: 13812351
RS ID: rs144037310
ClinVar ID: CV563070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 75,263,647
GRCh38 8 74,351,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362932.2:c.-18+834A>G
NM_001362929.2:c.-18+91A>G
NM_001040875.4:c.52A>G
NG_008787.3:g.35283A>G
More... 		04/05/2018 intron variant uncertain significance AllHighlyPenetrant; 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:XM_047421902
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:NM_001362932
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:NM_001362929
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:NM_018972
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENVICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL
GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001040875
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENVICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV
DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNE
ETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA
FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_017013586
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENVICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKVFHHWKSSLDLHPSMCRPDLLCPLRSVLYGQPFSFC*

Gene Symbol:GDAP1
Accession:NM_001362930
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENVICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ
VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN
ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362931
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENVICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPASHMQHTGG
RTAHLVPKTTVDLAELAALTVYQ*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:32376792  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000689392 CLINVAR
  RCV002458217 CLINVAR
  RCV003235352 CLINVAR
dbSNP (RS) rs144037310 CLINVAR
MedGen C0950123 CLINVAR
  C1859198 CLINVAR
  CN169374 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 214400 CLINVAR
  606598 CLINVAR