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NM_014975.3(MAST1):c.112A>G (p.Ile38Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2023
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:
RCV004068654.1

Allele description [Variation Report for NM_014975.3(MAST1):c.112A>G (p.Ile38Val)]

NM_014975.3(MAST1):c.112A>G (p.Ile38Val)

Gene:
MAST1:microtubule associated serine/threonine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_014975.3(MAST1):c.112A>G (p.Ile38Val)
HGVS:
  • NC_000019.10:g.12840474A>G
  • NG_054729.1:g.11544A>G
  • NM_014975.2:c.112A>G
  • NM_014975.3:c.112A>GMANE SELECT
  • NP_055790.1:p.Ile38Val
  • NC_000019.9:g.12951288A>G
...more
Protein change:
I38V
Molecular consequence:
  • NM_014975.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004904482Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 10, 2023)
germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024

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