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Variant : CV590918 (NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met)) Homo sapiens

Symbol: CV590918
Name: NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met)
Condition: Short stature [RCV000736131]|not provided [RCV000919823]
Clinical Significance: likely pathogenic|likely benign
Last Evaluated: 12/27/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: case-control|clinical testing
HGVS Name(s): NG_050661.1:g.13734G>A
NM_005560.5:c.10322C>T
NC_000020.11:g.62310789G>A
NM_005560.4:c.10322C>T
NC_000020.10:g.60885845G>A
NP_005551.3:p.Thr3441Met
NG_050626.1:g.61532C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,310,789 - 62,310,789CLINVAR
GRCh372060,885,845 - 60,885,845CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Decreased body height; Height less than 3rd percentile; Small stature; Stature below 3rd percentile



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349939
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-10-15
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.