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Variant : CV422802 (NM_005560.5(LAMA5):c.3728C>T (p.Pro1243Leu)) Homo sapiens

Symbol: CV422802
Name: NM_005560.5(LAMA5):c.3728C>T (p.Pro1243Leu)
Condition: Familial hematuria [RCV000494691]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LAMA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: phenotyping only
HGVS Name(s): NG_050626.1:g.41454C>T
NC_000020.11:g.62330867G>A
NC_000020.10:g.60905923G>A
NP_005551.3:p.Pro1243Leu
NM_005560.5:c.3728C>T
NM_005560.4:c.3728C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382062,330,867 - 62,330,867CLINVAR
GRCh372060,905,923 - 60,905,923CLINVAR
Cytogenetic Map2020q13.33CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12914145
Created: 2017-07-11
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.