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NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu) AND Congenital hereditary endothelial dystrophy of cornea

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2008
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:
RCV000001368.3

Allele description [Variation Report for NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)]

NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)

Gene:
SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
HGVS:
  • NC_000020.11:g.3230258G>A
  • NG_017072.1:g.13984C>T
  • NM_001174089.2:c.1418C>TMANE SELECT
  • NM_001174090.2:c.1547C>T
  • NM_001363745.2:c.1304C>T
  • NM_032034.3:c.1466C>T
  • NM_032034.4:c.1466C>T
  • NP_001167560.1:p.Ser473Leu
  • NP_001167561.1:p.Ser516Leu
  • NP_001350674.1:p.Ser435Leu
  • NP_114423.1:p.Ser489Leu
  • NC_000020.10:g.3210904G>A
  • NR_135000.1:n.1586C>T
Protein change:
S435L; SER489LEU
Links:
OMIM: 610206.0002; dbSNP: rs121909388
NCBI 1000 Genomes Browser:
rs121909388
Molecular consequence:
  • NM_001174089.2:c.1418C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174090.2:c.1547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363745.2:c.1304C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032034.4:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135000.1:n.1586C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital hereditary endothelial dystrophy of cornea
Synonyms:
Corneal dystrophy, congenital hereditary endothelial; Congenital hereditary endothelial dystrophy of the cornea; Maumenee corneal dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009019; MedGen: C1857569; Orphanet: 293603; OMIM: 217700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021518OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T.

Hum Mol Genet. 2008 Mar 1;17(5):656-66. Epub 2007 Nov 16.

PubMed [citation]
PMID:
18024964

Details of each submission

From OMIM, SCV000021518.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Pakistani family, Vithana et al. (2006) found that corneal endothelial dystrophy (CHED; 217700) cosegregated with a missense mutation, ser489 to leu (S489L), in the SLC4A11 gene. The amino acid substitution arose from a 1466C-T transition in exon 12.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024