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NM_006068.4(TLR6):c.1729_1730delAT (p.Met577Valfs)

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 17, 2015)
Last evaluated:
Oct 31, 2014
Accession:
VCV000208867.1
Variation ID:
208867
Description:
2bp deletion
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NM_006068.4(TLR6):c.1729_1730delAT (p.Met577Valfs)

Allele ID
205441
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
4p14
Genomic location
4: 38827744-38827745 (GRCh38) GRCh38 UCSC
4: 38829365-38829366 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.12:g.38827744_38827745delAT
NC_000004.11:g.38829365_38829366delAT
NM_006068.4:c.1729_1730delAT NP_006059.2:p.Met577Valfs frameshift
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs863223364
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided Oct 31, 2014 RCV000201386.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TLR6 - - GRCh38
GRCh37
7 27

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 31, 2014)
no assertion criteria provided
Method: clinical testing
Malformation of Cortical Development
Allele origin: de novo
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
Accession: SCV000239925.1
Submitted: (Jul 17, 2015)
Evidence details

Citations for this variant

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

Record last updated Mar 29, 2019