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Variant : CV496738 (NM_147196.2(TMIE):c.390G>A (p.Lys130=)) Homo sapiens

Symbol: CV496738
Name: NM_147196.2(TMIE):c.390G>A (p.Lys130=)
Condition: not specified [RCV000606314]
Clinical Significance: likely benign
Last Evaluated: 07/25/2017
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.46709607G>A
p.Lys130Lys
NC_000003.11:g.46751097G>A
NM_147196.2:c.390G>A
NP_671729.2:p.Lys130=
NG_011628.1:g.13275G>A
NM_001370525.1:c.231G>A
NP_001357453.1:p.Lys77=
NP_001357454.1:p.Lys77=
NM_001370524.1:c.231G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,607 - 46,709,607CLINVAR
GRCh37346,751,097 - 46,751,097CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13530961
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-02-04
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.