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NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) AND Ullrich congenital muscular dystrophy 2

Germline classification:
Pathogenic (1 submission)
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:
RCV001007808.1

Allele description [Variation Report for NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)]

NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)

Gene:
COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)
HGVS:
  • NC_000006.12:g.75183458dup
  • NG_042181.1:g.27455dup
  • NM_004370.6:c.1488dupMANE SELECT
  • NM_080645.3:c.73+19262dup
  • NP_004361.3:p.Phe497fs
  • NC_000006.11:g.75893174dup
  • NM_004370.5:c.1488dup
Protein change:
F497fs
Links:
dbSNP: rs1582196903
NCBI 1000 Genomes Browser:
rs1582196903
Molecular consequence:
  • NM_004370.6:c.1488dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080645.3:c.73+19262dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ullrich congenital muscular dystrophy 2 (UCMD2)
Identifiers:
MONDO: MONDO:0014654; MedGen: C4225314; Orphanet: 75840; OMIM: 616470

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167499Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167499.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Apr 23, 2022