RGD:13787022 Rat Genome Database

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Variant: RGD:13787022 -  Homo sapiens

RGD ID: 13787022
RS ID: rs1554664086
ClinVar ID: CV545279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNE  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 36,249,351
GRCh38 9 36,249,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190384.3:c.-13-2872T>C
NG_008246.1:g.32691T>C
NC_000009.12:g.36249354A>G
NC_000009.11:g.36249351A>G
More... 		03/09/2018 initiatior codon variant|initiator_codon_variant|intron variant uncertain significance IBM 2; Inclusion body myopathy 2; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; Inclusion body myopathy autosomal recessive; Inclusion body myopathy quadriceps sparing; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES; Nonaka distal myopathy; Nonaka myopathy
Disease Annotations     Click to see Annotation Detail View
GNE myopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GNE
Accession:NM_001190388
Location:5UTRS;INTRON

Gene Symbol:GNE
Accession:NM_001374798
Location:5UTRS;INTRON

Gene Symbol:GNE
Accession:NM_001190384
Location:5UTRS;INTRON

Gene Symbol:GNE
Accession:NM_001128227
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METYGYLQRESCFQGPHELYFKNLSKRNKQITEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSH
LIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIR
ILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDV
KSKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQ
LVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPR
ILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLI
LQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFG
QGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLL
LVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALS
SVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY*

Gene Symbol:GNE
Accession:NM_001374797
Location:EXON

Gene Symbol:GNE
Accession:XM_005251334
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METYGYLQRESCFQGPHELYFKNLSKRNKQITEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSH
LIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIR
ILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGSKE
MVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQ
DKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDL
RTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCS
CGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTM
NPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY*

Gene Symbol:GNE
Accession:NM_001190383
Location:EXON

Gene Symbol:GNE
Accession:NM_005476
Location:EXON

Gene Symbol:GNE
Accession:XM_017014167
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000673232 CLINVAR
dbSNP (RS) rs1554664086 CLINVAR
MedGen C1853926 CLINVAR
NCBI Gene GNE CLINVAR
OMIM 600737 CLINVAR
  603824 CLINVAR
  605820 CLINVAR