rs786202314 Rat Genome Database

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Variant: rs786202314 -  Homo sapiens

RGD ID: 9852446
RS ID: rs786202314
ClinVar ID: CV182204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129934333  TMEM127  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 96,931,107
GRCh38 2 96,265,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027695.1:g.5645G>A
NC_000002.12:g.96265369C>T
NC_000002.11:g.96931107C>T
p.G5R
More... 		07/24/2014 missense variant uncertain significance Cancer predisposition; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

Gene Symbol:TMEM127
Accession:NM_001407283
Location:5UTRS;INTRON

Gene Symbol:TMEM127
Accession:NM_017849
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYAPRGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL
KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ
HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:TMEM127
Accession:NM_001193304
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYAPRGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL
KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ
HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:TMEM127
Accession:NM_001407282
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000165058 CLINVAR
  RCV001301455 CLINVAR
  RCV003462163 CLINVAR
dbSNP (RS) rs786202314 CLINVAR
MedGen C0027672 CLINVAR
  C0031511 CLINVAR
  C1708353 CLINVAR
NCBI Gene LOC129934333 CLINVAR
  TMEM127 CLINVAR
OMIM 171300 CLINVAR
  613403 CLINVAR
SNOMED CT 699346009 CLINVAR