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Variant : CV676965 (NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn)) Homo sapiens

Symbol: CV676965
Name: NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn)
Condition: Muscular dystrophy [RCV000850081]
Clinical Significance: uncertain significance
Last Evaluated: 07/31/2018
Review Status: criteria provided, single submitter
Related Genes: MYH2   MYHAS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.10528834C>A
NC_000017.10:g.10432151C>A
NM_017534.5:c.3600G>T
NP_001093582.1:p.Lys1200Asn
NP_060004.3:p.Lys1200Asn
NM_001100112.1:c.3600G>T
NM_017534.6:c.3600G>T
NG_013014.1:g.25867G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381710,528,834 - 10,528,834CLINVAR
GRCh371710,432,151 - 10,432,151CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Muscle biopsy shows dystrophic changes



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14978054
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-07-28
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.