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Variant : CV59851 (NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg)) Homo sapiens

Symbol: CV59851
Name: NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg)
Condition: Hypogonadotropic hypogonadism 21 with or without anosmia [RCV000043605]
Clinical Significance: pathogenic
Last Evaluated: 06/05/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FLRT3   MACROD2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|missense|missense variant
Evidence: literature only
HGVS Name(s): NM_013281.3:c.1016A>G
NG_033913.1:g.16177A>G
NC_000020.11:g.14326491T>C
NC_000020.10:g.14307137T>C
NP_037413.1:p.Lys339Arg
NP_938205.1:p.Lys339Arg
Q9NZU0:p.Lys339Arg
NM_198391.3:c.1016A>G
NM_001351661.2:c.272-166988T>C
NM_001351663.2:c.272-166988T>C
NM_080676.6:c.272-166988T>C
NG_054905.1:g.335992T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382014,326,491 - 14,326,491CLINVAR
GRCh372014,307,137 - 14,307,137CLINVAR
Cytogenetic Map2020p12.1CLINVAR
Trait Synonyms: HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
Age Of Onset: childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8611974
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.