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NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr) AND MEPE-related disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 13, 2019
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003978151.2

Allele description [Variation Report for NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)]

NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)

Gene:
MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)
HGVS:
  • NC_000004.12:g.87846214A>C
  • NG_034073.1:g.29817A>C
  • NM_001184694.3:c.1346A>C
  • NM_001184695.4:c.1007A>C
  • NM_001184696.2:c.1007A>C
  • NM_001184697.2:c.1007A>C
  • NM_001291183.2:c.1439A>C
  • NM_020203.6:c.1346A>CMANE SELECT
  • NP_001171623.1:p.Asn449Thr
  • NP_001171624.1:p.Asn336Thr
  • NP_001171625.1:p.Asn336Thr
  • NP_001171626.1:p.Asn336Thr
  • NP_001278112.1:p.Asn480Thr
  • NP_001278112.1:p.Asn480Thr
  • NP_064588.1:p.Asn449Thr
  • NC_000004.11:g.88767366A>C
  • NM_001291183.1:c.1439A>C
...more
Protein change:
N336T
Links:
dbSNP: rs61731017
NCBI 1000 Genomes Browser:
rs61731017
Molecular consequence:
  • NM_001184694.3:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184695.4:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184696.2:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184697.2:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291183.2:c.1439A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020203.6:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MEPE-related disorder
Synonyms:
MEPE-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004790969PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Benign
(Aug 13, 2019)
germlineclinical testing

Last Updated: Oct 13, 2024

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