RGD:13470135 Rat Genome Database

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Variant: RGD:13470135 -  Homo sapiens

RGD ID: 13470135
RS ID: rs1279013936
ClinVar ID: CV457966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 75,272,446
GRCh38 8 74,360,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_061845.2:p.Asp129Asn
NC_000008.11:g.74360211G>A
NG_008787.3:g.44082G>A
NC_000008.10:g.75272446G>A
More... 		02/28/2017 intron variant|missense variant uncertain significance 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_001362932
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362931
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPASHMQHTGG
RTAHLVPKTTVDLAELAALTVYQ*

Gene Symbol:GDAP1
Accession:NM_001040875
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTV
DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNE
ETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA
FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_047421902
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362929
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_018972
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL
GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_017013586
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLNSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKVFHHWKSSLDLHPSMCRPDLLCPLRSVLYGQPFSFC*

Gene Symbol:GDAP1
Accession:NM_001362930
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000545921 CLINVAR
dbSNP (RS) rs1279013936 CLINVAR
MedGen C1859198 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 214400 CLINVAR
  606598 CLINVAR