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Variant : CV590919 (NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys)) Homo sapiens

Symbol: CV590919
Name: NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys)
Condition: Short stature [RCV000736128]
Clinical Significance: likely pathogenic
Last Evaluated: 11/18/2001
Review Status: no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: case-control
HGVS Name(s): NM_005560.5:c.6301G>A
NP_005551.3:p.Glu2101Lys
NM_005560.4:c.6301G>A
NC_000020.10:g.60897370C>T
NC_000020.11:g.62322314C>T
NG_050626.1:g.50007G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,322,314 - 62,322,314CLINVAR
GRCh372060,897,370 - 60,897,370CLINVAR
Cytogenetic Map2020q13.33CLINVAR
Trait Synonyms: Decreased body height; Height less than 3rd percentile; Small stature; Stature below 3rd percentile



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349934
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-10-20
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.