NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) AND Congenital lactase deficiency

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049802.1

Allele description [Variation Report for NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)]

NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)

Gene:
LCT:lactase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)
HGVS:
  • NC_000002.12:g.135804812G>C
  • NG_008104.2:g.55358C>G
  • NM_002299.4:c.4419C>GMANE SELECT
  • NP_002290.2:p.Tyr1473Ter
  • LRG_338t1:c.4419C>G
  • LRG_338:g.55358C>G
  • NC_000002.11:g.136562382G>C
  • NM_002299.2:c.4419C>G
Protein change:
Y1473*
Links:
dbSNP: rs386833834
NCBI 1000 Genomes Browser:
rs386833834
Molecular consequence:
  • NM_002299.4:c.4419C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital lactase deficiency
Synonyms:
ALACTASIA, CONGENITAL; DISACCHARIDE INTOLERANCE II
Identifiers:
MONDO: MONDO:0009115; MedGen: C0268179; OMIM: 223000

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082211Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

PubMed (1)
[See all records that cite this PMID]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082211

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.

Uchida N, Sakamoto O, Irie M, Abukawa D, Takeyama J, Kure S, Tsuchiya S.

Tohoku J Exp Med. 2012 May;227(1):69-72.

PubMed [citation]
PMID:
22688420

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center