NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln) AND Anemia, congenital dyserythropoietic, type 1a

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:: RCV002280806.1

Allele description [Variation Report for NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)]

NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)

Gene:

CDAN1:codanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.2

Genomic location:

Preferred name:

NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)

HGVS:

NC_000015.10:g.42730685A>T
NG_012491.1:g.11535T>A
NM_138477.4:c.2087T>AMANE SELECT
NP_612486.2:p.Leu696Gln
LRG_1164t1:c.2087T>A
LRG_1164:g.11535T>A
LRG_1164p1:p.Leu696Gln
NC_000015.9:g.43022883A>T

Protein change:

L696Q

Molecular consequence:

NM_138477.4:c.2087T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Anemia, congenital dyserythropoietic, type 1a (CDAN1A)
Synonyms:: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
Identifiers:: MONDO: MONDO:0009135; MedGen: C5574667; OMIM: 224120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002569069	Department of Emergency, The First Affiliated Hospital of Army Medical University	no assertion criteria provided	Pathogenic	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002569069

Department of Emergency, The First Affiliated Hospital of Army Medical University

no assertion criteria provided

Pathogenic

biparental

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	biparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Emergency, The First Affiliated Hospital of Army Medical University, SCV002569069.1

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

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

Last Updated: Jul 29, 2023

ClinVar

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