Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV575640 (NM_014215.3(INSRR):c.3397+9G>A) Homo sapiens

Symbol: CV575640
Name: NM_014215.3(INSRR):c.3397+9G>A
Condition: Familial medullary thyroid carcinoma [RCV000708801]|Hereditary insensitivity to pain with anhidrosis [RCV000986435]
Clinical Significance: uncertain significance
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|missense variant
Evidence: clinical testing
HGVS Name(s): LRG_261t1:c.32C>T
NM_001007792.1:c.32C>T
LRG_261:g.31354C>T
NG_007493.1:g.31354C>T
NC_000001.11:g.156842103C>T
NC_000001.10:g.156811895C>T
LRG_261p1:p.Pro11Leu
NP_001007793.1:p.Pro11Leu
NM_014215.3:c.3397+9G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381156,842,103 - 156,842,103CLINVAR
GRCh371156,811,895 - 156,811,895CLINVAR
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; MTC, familial; Neuropathy, congenital sensory, with anhidrosis; Thyroid cancer, familial medullary



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13820077
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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