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Variant : CV249704 (NM_172362.3(KCNH1):c.310+10G>A) Homo sapiens

Symbol: CV249704
Name: NM_172362.3(KCNH1):c.310+10G>A
Condition: not specified [RCV000247790]
Clinical Significance: benign
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_029777.1:g.35630G>A
NC_000001.11:g.211103486C>T
NC_000001.10:g.211276828C>T
NM_172362.3:c.310+10G>A
NM_172362.2:c.310+10G>A
NG_029777.2:g.35630G>A
NM_002238.4:c.310+10G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,103,486 - 211,103,486CLINVAR
GRCh371211,276,828 - 211,276,828CLINVAR
Cytogenetic Map11q32.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11547463
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-10-08
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.