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NM_001848.3(COL6A1):c.1002+44_1002+82del AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 7, 2012
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000079734.7

Allele description [Variation Report for NM_001848.3(COL6A1):c.1002+44_1002+82del]

NM_001848.3(COL6A1):c.1002+44_1002+82del

Gene:
COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001848.3(COL6A1):c.1002+44_1002+82del
HGVS:
  • NC_000021.9:g.45990466_45990504del
  • NG_008674.1:g.13718_13756del
  • NM_001848.3:c.1002+44_1002+82delMANE SELECT
  • LRG_475:g.13718_13756del
  • NC_000021.8:g.47410380_47410418del
  • NM_001848.2:c.1002+43_1002+81delAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA
Links:
dbSNP: rs72435610
NCBI 1000 Genomes Browser:
rs72435610
Molecular consequence:
  • NM_001848.3:c.1002+44_1002+82del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111617Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Sep 7, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111617.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 1, 2023