U.S. flag

An official website of the United States government

NM_130849.4(SLC39A4):c.1068C>T (p.Val356=) AND Hereditary acrodermatitis enteropathica

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 29, 2020
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:
RCV001826338.1

Allele description [Variation Report for NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)]

NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)

Gene:
SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)
HGVS:
  • NC_000008.11:g.144414343G>A
  • NG_012234.2:g.7548C>T
  • NM_001374839.1:c.786C>T
  • NM_017767.3:c.993C>T
  • NM_130849.4:c.1068C>TMANE SELECT
  • NP_001361768.1:p.Val262=
  • NP_060237.3:p.Val331=
  • NP_570901.3:p.Val356=
  • NC_000008.10:g.145639727G>A
Links:
dbSNP: rs557593730
NCBI 1000 Genomes Browser:
rs557593730
Molecular consequence:
  • NM_001374839.1:c.786C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017767.3:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_130849.4:c.1068C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary acrodermatitis enteropathica (AEZ)
Synonyms:
Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008713; MedGen: C0221036; Orphanet: 37; OMIM: 201100

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002083119Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 29, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002083119.1

#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: Sep 29, 2024