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NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer) AND Lipid proteinosis

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000208569.2

Allele description [Variation Report for NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)]

NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)

Gene:
ECM1:extracellular matrix protein 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)
Other names:
NP_004416.2:p.Gln32Ter
HGVS:
  • NC_000001.11:g.150509553_150509554delinsTT
  • NG_012062.1:g.6543_6544delinsTT
  • NG_034226.1:g.27190_27191delinsTT
  • NM_001202858.2:c.93_94delinsTT
  • NM_004425.4:c.93_94delinsTTMANE SELECT
  • NM_022664.3:c.93_94delinsTT
  • NP_001189787.1:p.Arg31_Gln32delinsSerTer
  • NP_004416.2:p.Arg31_Gln32delinsSerTer
  • NP_073155.2:p.Arg31_Gln32delinsSerTer
  • NC_000001.10:g.150482029_150482030delinsTT
  • NM_004425.3:c.93_94delGCinsTT
Links:
dbSNP: rs869025567
NCBI 1000 Genomes Browser:
rs869025567
Molecular consequence:
  • NM_001202858.2:c.93_94delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004425.4:c.93_94delinsTT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022664.3:c.93_94delinsTT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lipid proteinosis
Synonyms:
Lipoproteinosis; Hyalinosis cutis et mucosae; Lipoid Proteinosis of Urbach and Wiethe; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009530; MedGen: C0023795; Orphanet: 530; OMIM: 247100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264330GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Libyan, Indiangermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA.

Exp Dermatol. 2007 Nov;16(11):881-90. Review.

PubMed [citation]
PMID:
17927570

Details of each submission

From GeneReviews, SCV000264330.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Libyan, Indiannot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2022