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Variant : CV575642 (NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)) Homo sapiens

Symbol: CV575642
Name: NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)
Condition: Familial medullary thyroid carcinoma [RCV000708803]
Clinical Significance: uncertain significance
Last Evaluated: 07/02/2018
Review Status: criteria provided, single submitter
Related Genes: INSRR   NTRK1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_261t1:c.119C>A
NM_001007792.1:c.119C>A
LRG_261:g.31441C>A
NG_007493.1:g.31441C>A
NC_000001.11:g.156842190C>A
NC_000001.10:g.156811982C>A
LRG_261p1:p.Ala40Glu
NP_001007793.1:p.Ala40Glu
NM_014215.3:c.3319G>T
NP_055030.1:p.Ala1107Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381156,842,190 - 156,842,190CLINVAR
GRCh371156,811,982 - 156,811,982CLINVAR
Cytogenetic Map11q23.1CLINVAR
Trait Synonyms: MTC, familial; Thyroid cancer, familial medullary



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13820079
Created: 2018-11-06
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.