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Variant : CV379957 (NM_001204527.2(SSR4):c.234C>T (p.Val78=)) Homo sapiens

Symbol: CV379957
Name: NM_001204527.2(SSR4):c.234C>T (p.Val78=)
Condition: not specified [RCV000429310]
Clinical Significance: likely benign
Last Evaluated: 10/10/2016
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001204526.1:c.243C>T
NG_041795.1:g.8307C>T
NC_000023.11:g.153797481C>T
NC_000023.10:g.153062936C>T
NP_001191456.1:p.Val78=
NP_001191455.1:p.Val81=
NR_037927.1:n.555C>T
NP_006271.1:p.Val70=
NM_006280.3:c.210C>T
NM_001204527.2:c.234C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,797,481 - 153,797,481CLINVAR
GRCh37X153,062,936 - 153,062,936CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12839701
Created: 2017-04-11
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.