NM_000042.3(APOH):c.112A>G (p.Lys38Glu) AND not provided

Germline classification:: Likely 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:: RCV000082872.9

Allele description [Variation Report for NM_000042.3(APOH):c.112A>G (p.Lys38Glu)]

NM_000042.3(APOH):c.112A>G (p.Lys38Glu)

Gene:

APOH:apolipoprotein H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_000042.3(APOH):c.112A>G (p.Lys38Glu)

HGVS:

NC_000017.11:g.66228149T>C
NG_012045.1:g.6290A>G
NM_000042.3:c.112A>GMANE SELECT
NP_000033.2:p.Lys38Glu
NC_000017.10:g.64224267T>C
NM_000042.2:c.112A>G

Protein change:

K38E

Links:

dbSNP: rs398124629

NCBI 1000 Genomes Browser:

rs398124629

Molecular consequence:

NM_000042.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114923	Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital	no assertion criteria provided	probable-pathogenic	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114923

Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital

no assertion criteria provided

probable-pathogenic

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	2	not provided	literature only

Details of each submission

From Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital, SCV000114923.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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