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Variant : CV578647 (NM_024945.3(RMI1):c.1250_1254AAGAA[1] (p.Lys419fs)) Homo sapiens

Symbol: CV578647
Name: NM_024945.3(RMI1):c.1250_1254AAGAA[1] (p.Lys419fs)
Condition: not provided [RCV000714971]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: no assertion criteria provided
Related Genes: RMI1  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_001358291.2:c.1250_1254AAGAA[1]
NM_001358292.2:c.1250_1254AAGAA[1]
NM_001358293.2:c.1250_1254AAGAA[1]
NC_000009.12:g.84002236_84002240AAGAA[1]
NC_000009.11:g.86617151_86617155AAGAA[1]
NM_024945.2:c.1255_1259del
NP_001345220.1:p.Lys419fs
NM_001358294.1:c.1250_1254AAGAA[1]
NM_024945.3:c.1250_1254AAGAA[1]
NP_001345221.1:p.Lys419fs
NP_001345222.1:p.Lys419fs
NP_001345223.1:p.Lys419fs
NP_079221.2:p.Lys419fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38984,002,241 - 84,002,245CLINVAR
GRCh37986,617,156 - 86,617,160CLINVAR
Cytogenetic Map99q21.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13827764
Created: 2018-12-06
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.