RGD:126737778 Rat Genome Database

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Variant: RGD:126737778 -  Homo sapiens

RGD ID: 126737778
RS ID: rs149766604
ClinVar ID: CV1012853
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C17orf107  CHRNE  LOC127885550  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 4,805,777
GRCh38 17 4,902,482
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1254t1:c.202G>A
NM_001145536.2:c.*1949C>T
NM_000080.4:c.202G>A
LRG_1254:g.5594G>A
More... 		03/04/2021 3 prime utr variant uncertain significance CONGENITAL MYASTHENIC SYNDROME TYPE Ia1; Myasthenic syndrome, congenital, 4a, slow-channel; MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C17orf107
Accession:NM_001145536
Location:3UTRS;EXON

Gene Symbol:CHRNE
Accession:NM_000080
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKE*TLTTSVWIGIDW
QDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQ
NCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVM
NCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRH
RQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
RVPDLPYAPCIQP*

Gene Symbol:CHRNE
Accession:XM_017024115
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKE*TLTTSVWIGIDWQDYRLNYSKDDF
GGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYN
AEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKPLFYVINIIVPCV
LISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRT
PTTHAMSPRLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQS
LGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPCIQ
P*

Gene Symbol:C17orf107
Accession:XR_007065254
Location:INTRON;NON-CODING

Gene Symbol:C17orf107
Accession:XR_007065253
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001314025 CLINVAR
  RCV001836289 CLINVAR
dbSNP (RS) rs149766604 CLINVAR
MedGen C0751882 CLINVAR
  C4225413 CLINVAR
NCBI Gene C17orf107 CLINVAR
  CHRNE CLINVAR
OMIM 100725 CLINVAR
  605809 CLINVAR