NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001573431.1

Allele description [Variation Report for NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)]

NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)

Gene:
COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
HGVS:
  • NC_000021.9:g.46002281G>A
  • NG_008674.1:g.25533G>A
  • NM_001848.2:c.2130G>A
  • NM_001848.3:c.2130G>AMANE SELECT
  • NP_001839.2:p.Thr710=
  • NP_001839.2:p.Thr710=
  • LRG_475t1:c.2130G>A
  • LRG_475:g.25533G>A
  • LRG_475p1:p.Thr710=
  • NC_000021.8:g.47422195G>A
  • NP_001839.2:p.(=)
Links:
dbSNP: rs147219060
NCBI 1000 Genomes Browser:
rs147219060
Molecular consequence:
  • NM_001848.2:c.2130G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001848.3:c.2130G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001799316Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799316.1

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

Last Updated: Nov 27, 2021

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