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NM_002272.4(KRT4):c.638_639insACA (p.Lys214_Thr215insGln)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jul 31, 2012)
Accession:
VCV000066517.1
Variation ID:
66517
Description:
3bp insertion
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NM_002272.4(KRT4):c.638_639insACA (p.Lys214_Thr215insGln)

Allele ID
77414
Variant type
Insertion
Variant length
3 bp
Cytogenetic location
12q13.13
Genomic location
12: 52811801-52811802 (GRCh38) GRCh38 UCSC
12: 53205585-53205586 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.53205585_53205586insTGT
NC_000012.12:g.52811801_52811802insTGT
NM_002272.4:c.638_639insACA MANE Select NP_002263.3:p.Lys214_Thr215insGln
NG_007380.1:g.7750_7751insACA
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:52811801::TGT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA217238
dbSNP: rs267607432
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000056921.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRT4 - - GRCh38
GRCh37
97 108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000088034.1
Submitted: (Jul 31, 2012)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs267607432...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 27, 2019