RGD:11585744 Rat Genome Database

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Variant: RGD:11585744 -  Homo sapiens

RGD ID: 11585744
RS ID: rs146566121
ClinVar ID: CV288628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB7A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,526,481
GRCh38 3 128,807,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004637.5:c.495G>A
LRG_266t1:c.495G>A
LRG_266:g.86503G>A
NG_008070.1:g.86503G>A
More... 		12/31/2019 synonymous variant benign|likely benign CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B; Charcot-Marie-Tooth disease, axonal, type 2b; Charcot-Marie-Tooth disease, neuronal, Type 2B; Charcot-Marie-Tooth Neuropathy Type 2B; CMT 2B; Hereditary motor and sensory neuropathy 2 B (HMSN 2 B); HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB; none provided; Peripheral sensory neuropathy, autosomal dominant (PSN)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB7A
Accession:NM_004637
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRKKVLLKVIILGDSGVGKTSLMNQYVNKKFSNQYKATIGADFLTKEVMVDDRLVTMQIWDTAGQERFQSLGVAFYRG
ADCCVLVFDVTAPNTFKTLDSWRDEFLIQASPRDPENFPFVVLGNKIDLENRQVATKRAQAWCYSKNNIPYFETSAKEAI
NVEQAFQTIARNALKQETEVELYNEFPEPIKLDKNDRAKASAESCSC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000863484 CLINVAR
  RCV001718728 CLINVAR
  RCV002338942 CLINVAR
dbSNP (RS) rs146566121 CLINVAR
MedGen C0950123 CLINVAR
  C1833219 CLINVAR
  C3661900 CLINVAR
NCBI Gene RAB7A CLINVAR
OMIM 600882 CLINVAR
  602298 CLINVAR