RGD:151349521 Rat Genome Database

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Variant: RGD:151349521 -  Homo sapiens

RGD ID: 151349521
RS ID: rs1591025020
ClinVar ID: CV1321309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTMR2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 95,621,412
GRCh38 11 95,888,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243571.2:c.-319C>G
NM_016156.6:c.94C>G
LRG_257:g.40960C>G
NG_008333.1:g.40960C>G
More... 		02/04/2021 5 prime utr variant uncertain significance CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1; Charcot-Marie-Tooth disease, Type 4B; Charcot-Marie-Tooth Neuropathy Type 4B1; CMT 4B; CMT 4B1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTMR2
Accession:NM_201281
Location:5UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_201278
Location:5UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_001243571
Location:5UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427806
Location:5UTRS;EXON

Gene Symbol:MTMR2
Accession:XM_047427807
Location:5UTRS;EXON

Gene Symbol:MTMR2
Accession:NM_016156
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSSSCESLGSQPAAARPPSVDSLSSASTSDSENSVHTKSASVVSSDSISTSADNFSPDLRVLRESNKLAEMEEPPLLP
GENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRN
LRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY
PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFD
ARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGAL
RIADKVESGKTSVVVHCSDGWDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF
LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYS
NHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQ
TVV*

Gene Symbol:MTMR2
Accession:XM_047427808
Location:INTRON

Gene Symbol:MTMR2
Accession:XM_047427805
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001802289 CLINVAR
dbSNP (RS) rs1591025020 CLINVAR
MedGen C1832399 CLINVAR
NCBI Gene MTMR2 CLINVAR
OMIM 601382 CLINVAR
  603557 CLINVAR