NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) AND Amelogenesis imperfecta

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:: RCV002254672.2

Allele description [Variation Report for NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)]

NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)

Gene:

KLK4:kallikrein related peptidase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

Preferred name:

NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)

HGVS:

NC_000019.10:g.50907062A>G
NG_012154.2:g.8677T>C
NM_001302961.2:c.352T>C
NM_004917.5:c.637T>CMANE SELECT
NP_001289890.1:p.Cys118Arg
NP_004908.4:p.Cys213Arg
NP_004908.4:p.Cys213Arg
NC_000019.9:g.51410318A>G
NM_004917.4:c.637T>C
NR_126566.2:n.626T>C

Protein change:

C118R

Links:

dbSNP: rs1266288524

NCBI 1000 Genomes Browser:

rs1266288524

Molecular consequence:

NM_001302961.2:c.352T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004917.5:c.637T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_126566.2:n.626T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amelogenesis imperfecta (AI)
Synonyms:: Congenital enamel hypoplasia
Identifiers:: MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705

Recent activity

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DUF5702 domain-containing protein [Anaerostipes sp. 494a]
DUF5702 domain-containing protein [Anaerostipes sp. 494a]
gi|2214695931|ref|WP_242946347.1|

Protein
MULTISPECIES: HD domain-containing protein [Anaerostipes]
MULTISPECIES: HD domain-containing protein [Anaerostipes]
gi|1130997976|ref|WP_075760283.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002032322	Dental Genetics Laboratory, Seoul National University School of Dentistry	no assertion criteria provided	Pathogenic	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002032322

Dental Genetics Laboratory, Seoul National University School of Dentistry

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
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Dental Genetics Laboratory, Seoul National University School of Dentistry, SCV002032322.1

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

Last Updated: Dec 24, 2023

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