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NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000736281.2

Allele description [Variation Report for NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)]

NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)

Gene:
DNAH7:dynein axonemal heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.3
Genomic location:
Preferred name:
NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)
HGVS:
  • NC_000002.12:g.195857582C>T
  • NM_018897.3:c.8209G>AMANE SELECT
  • NP_061720.2:p.Gly2737Ser
  • NC_000002.11:g.196722306C>T
Protein change:
G2737S
Links:
dbSNP: rs770861172
NCBI 1000 Genomes Browser:
rs770861172
Molecular consequence:
  • NM_018897.3:c.8209G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein subcellular localization [Variation Ontology: 0033]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Name:
Abdominal situs inversus
Synonyms:
Situs inversus viscerum; Complete transposition
Identifiers:
MedGen: C0037221; Human Phenotype Ontology: HP:0003363

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864005Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)
no assertion criteria provided
Pathogenic
(Dec 3, 2018) 		paternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), SCV000864005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024