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Variant : CV789859 (NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys)) Homo sapiens

Symbol: CV789859
Name: NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys)
Condition: Hereditary insensitivity to pain with anhidrosis [RCV000986437]
Clinical Significance: likely benign
Last Evaluated: 05/28/2019
Review Status: criteria provided, single submitter
Related Genes: INSRR   NTRK1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NP_055030.1:p.Arg554Cys
LRG_261t1:c.122+4476G>A
NM_001007792.1:c.122+4476G>A
NM_014215.3:c.1660C>T
LRG_261:g.35920G>A
NG_007493.1:g.35920G>A
NC_000001.11:g.156846669G>A
NC_000001.10:g.156816461G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381156,846,669 - 156,846,669CLINVAR
GRCh371156,816,461 - 156,816,461CLINVAR
Cytogenetic Map11q23.1CLINVAR
Trait Synonyms: 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



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 21067022
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.