rs56252149 Rat Genome Database

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Variant: rs56252149 -  Homo sapiens

RGD ID: 21067019
RS ID: rs56252149
ClinVar ID: CV789858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSRR  NTRK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,814,027
GRCh38 1 156,844,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_261t1:c.122+2042G>A
NC_000001.11:g.156844235G>A
LRG_261:g.33486G>A
NG_007493.1:g.33486G>A
More... 		05/28/2019 intron variant benign Familial dysautonomia, type 2; FAMILIAL DYSAUTONOMIA, TYPE II; Hereditary sensory and autonomic neuropathy 4; Hereditary Sensory and Autonomic Neuropathy Type IV; HSAN 4; HSAN Type IV; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:INSRR
Accession:NM_014215
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 928
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPSLWPWGACLPVIFLSLGFGLDTVEVCPSLDIRSEVAELRQLENCSVVEGHLQILLMFTATGEDFRGLSFPRLTQVT
DYLLLFRVYGLESLRDLFPNLAVIRGTRLFLGYALVIFEMPHLRDVALPALGAVLRGAVRVEKNQELCHLSTIDWGLLQP
APGANHIVGNKLGEECADVCPGVLGAAGEPCAKTTFSGHTDYRCWTSSHCQRVCPCPHGMACTARGECCHTECLGGCSQP
EDPRACVACRHLYFQGACLWACPPGTYQYESWRCVTAERCASLHSVPGRASTFGIHQGSCLAQCPSGFTRNSSSIFCHKC
EGLCPKECKVGTKTIDSIQAAQDLVGCTHVEGSLILNLRQGYNLEPQLQHSLGLVETITGFLKIKHSFALVSLGFFKNLK
LIRGDAMVDGNYTLYVLDNQNLQQLGSWVAAGLTIPVGKIYFAFNPRLCLEHIYRLEEVTGTRGRQNKAEINPRTNGDRA
ACQTRTLRFVSNVTEADRILLRWERYEPLEARDLLSFIVYYKESPFQNATEHVGPDACGTQSWNLLDVELPLSRTQEPGV
TLASLKPWTQYAVFVRAITLTTEEDSPHQGAQSPIVYLRTLPAAPTVPQDVISTSNSSSHLLVRWKPPTQRNGNLTYYLV
LWQRLAEDGDLYLNDYCHRGLRLPTSNNDPRFDGEDGDPEAEMESDCCPCQHPPPGQVLPPLEAQEASFQKKFENFLHNA
ITIPISPWKVTSINKSPQRDSGRHRRAAGPLRLGGNSSDFEIQEDKVPRERAVLSGLRHFTEYRIDIHACNHAAHTVGCS
AATFVFARTMPHREADGIPGKVAWEASSKNSVLLRWLEPPDPNGLILKYEIKYRRLGEEATVLCVSRLRYAKFGGVHLAL
LPPGNYSARVRATSLAGNGSWTDSVAFYILGPEEEDAGGLHVLLTATHVGLTLLIVLAALGFFYGKKRNRTLYASVNPEY
FSASDMYVPDEWEVPREQISIIRELGQGSFGMVYEGLARGLEAGEESTPVALKTVNELASPRECIEFLKEASVMKAFKCH
HVVRLLGVVSQGQPTLVIMELMTRGDLKSHLRSLRPEAENNPGLPQPALGEMIQMAGEIADGMAYLAANKFVHRDLAARN
CMVSQDFTVKIGDFGMTRDVYETDYYRKGGKGLLPVRWMAPESLKDGIFTTHSDVWSFGVVLWEIVTLAEQPYQGLSNEQ
VLKFVMDGGVLEELEGCPLQLQELMSRCWQPNPRLRPSFTHILDSIQEELRPSFRLLSFYYSPECRGARGSLPTTDAEPD
SSPTPRDCSPQNGGPGH*

Gene Symbol:NTRK1
Accession:NM_001012331
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_002529
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001007792
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000986436 CLINVAR
  RCV004715366 CLINVAR
dbSNP (RS) rs56252149 CLINVAR
MedGen C0020074 CLINVAR
  C3661900 CLINVAR
NCBI Gene INSRR CLINVAR
  NTRK1 CLINVAR
OMIM 147671 CLINVAR
  191315 CLINVAR
  256800 CLINVAR
SNOMED CT 62985007 CLINVAR