U.S. flag

An official website of the United States government

NC_000006.12:g.31826815C>T AND Chronic obstructive pulmonary disease

Germline classification:
association (1 submission)
Last evaluated:
Aug 4, 2019
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:
RCV000856579.3

Allele description [Variation Report for NC_000006.12:g.31826815C>T]

NC_000006.12:g.31826815C>T

Gene:
HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NC_000006.12:g.31826815C>T
HGVS:
  • NC_000006.12:g.31826815C>T
  • NC_000006.11:g.31794592C>T
Links:
dbSNP: rs2763979
NCBI 1000 Genomes Browser:
rs2763979

Condition(s)

Name:
Chronic obstructive pulmonary disease
Synonyms:
Chronic pulmonary obstruction
Identifiers:
MONDO: MONDO:0005002; MedGen: C0024117; OMIM: 606963; Human Phenotype Ontology: HP:0006510

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999081HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
association
(Aug 4, 2019) 		germlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV000999081.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024