NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) AND Kartagener syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000190948.10

Allele description [Variation Report for NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)]

NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)

Gene:

DNAH1:dynein axonemal heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

Preferred name:

NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)

HGVS:

NC_000003.12:g.52353613A>C
NG_052911.1:g.42295A>C
NM_015512.5:c.3460A>CMANE SELECT
NP_056327.4:p.Lys1154Gln
NC_000003.11:g.52387629A>C
NM_015512.4:c.3460A>C

Protein change:

K1154Q; LYS1154GLN

Links:

OMIM: 603332.0005; dbSNP: rs544674332

NCBI 1000 Genomes Browser:

rs544674332

Molecular consequence:

NM_015512.5:c.3460A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Kartagener syndrome (CILD1)
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; IMMOTILE CILIA SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009484; MedGen: C4551906; Orphanet: 244; OMIM: 244400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245834	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245834

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

Imtiaz F, Allam R, Ramzan K, Al-Sayed M.

BMC Med Genet. 2015 Mar 17;16:14. doi: 10.1186/s12881-015-0162-5.

PubMed [citation]

PMID:: 25927852
PMCID:: PMC4422061

Details of each submission

From GeneReviews, SCV000245834.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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