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Variant : CV257887 (NM_000390.4(CHM):c.351A>G (p.Ala117=)) Homo sapiens

Symbol: CV257887
Name: NM_000390.4(CHM):c.351A>G (p.Ala117=)
Condition: not specified [RCV000247183]
Clinical Significance: benign
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.88547A>G
NG_009874.2:g.88547A>G
NC_000023.11:g.85964016T>C
NC_000023.10:g.85219021T>C
NM_000390.2:c.351A>G
NP_000381.1:p.Ala117=
NM_001320959.1:c.-94A>G
LRG_699t1:c.351A>G
NM_001362517.1:c.-94A>G
NM_001362518.2:c.-94A>G
NM_001362519.1:c.-94A>G
NM_000390.4:c.351A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,964,016 - 85,964,016CLINVAR
GRCh37X85,219,021 - 85,219,021CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11546993
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-09-10
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.