NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) AND Corneal dystrophy-perceptive deafness syndrome

Clinical significance:Benign (Last evaluated: Sep 16, 2020)

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:
RCV001275548.1

Allele description [Variation Report for NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)]

NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)

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.357G>A (p.Ala119=)
HGVS:
  • NC_000020.11:g.3234249C>T
  • NG_017072.1:g.9993G>A
  • NM_001174089.2:c.357G>AMANE SELECT
  • NM_001174090.1:c.486G>A
  • NM_001174090.2:c.486G>A
  • NM_001363745.2:c.357G>A
  • NM_032034.3:c.405G>A
  • NM_032034.4:c.405G>A
  • NP_001167560.1:p.Ala119=
  • NP_001167561.1:p.Ala162=
  • NP_001167561.1:p.Ala162=
  • NP_001350674.1:p.Ala119=
  • NP_114423.1:p.Ala135=
  • NP_114423.1:p.Ala135=
  • NC_000020.10:g.3214895C>T
  • NC_000020.10:g.3214895C>T
  • NR_135000.1:n.525G>A
Links:
dbSNP: rs34460295
NCBI 1000 Genomes Browser:
rs34460295
Molecular consequence:
  • NR_135000.1:n.525G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001174089.2:c.357G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001174090.1:c.486G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001174090.2:c.486G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363745.2:c.357G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032034.3:c.405G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032034.4:c.405G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Corneal dystrophy-perceptive deafness syndrome (CDPD)
Synonyms:
Corneal dystrophy and perceptive deafness; Congenital corneal dystrophy, progressive sensorineural deafness; Harboyan syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009015; MedGen: C1857572; Orphanet: 1490; OMIM: 217400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001460788Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001460788.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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