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Variant : CV508378 (NM_001204527.2(SSR4):c.390C>T (p.Asn130=)) Homo sapiens

Symbol: CV508378
Name: NM_001204527.2(SSR4):c.390C>T (p.Asn130=)
Condition: not specified [RCV000610837]
Clinical Significance: likely benign
Last Evaluated: 01/30/2018
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.399C>T
NG_041795.1:g.8911C>T
NC_000023.11:g.153798085C>T
NC_000023.10:g.153063540C>T
NP_001191456.1:p.Asn130=
NP_001191455.1:p.Asn133=
NM_006280.3:c.366C>T
NM_001204527.2:c.390C>T
NR_037927.1:n.711C>T
NP_006271.1:p.Asn122=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,085 - 153,798,085CLINVAR
GRCh37X153,063,540 - 153,063,540CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13537751
Created: 2018-05-08
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.