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Variant : CV540663 (NM_014215.3(INSRR):c.3397+17G>T) Homo sapiens

Symbol: CV540663
Name: NM_014215.3(INSRR):c.3397+17G>T
Condition: Hereditary insensitivity to pain with anhidrosis [RCV000670814]
Clinical Significance: uncertain significance
Last Evaluated: 11/13/2017
Review Status: criteria provided, single submitter
Related Genes: INSRR   NTRK1  
Variant Type: single nucleotide variant (SO:0002153)
Source: CLINVAR
Molecular Consequence: genic upstream transcript variant|nonsense
Evidence: clinical testing
HGVS Name(s): LRG_261t3:c.-18840C>A
NC_000001.10:g.156811887C>A
NM_001007792.1:c.24C>A
NG_007493.1:g.31346C>A
NC_000001.11:g.156842095C>A
LRG_261p1:p.Cys8Ter
LRG_261t1:c.24C>A
NM_002529.3:c.-18840C>A
LRG_261:g.31346C>A
NP_001007793.1:p.Cys8Ter
NM_014215.3:c.3397+17G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381156,842,095 - 156,842,095CLINVAR
GRCh371156,811,887 - 156,811,887CLINVAR
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: 13784420
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.