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NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile) AND Short stature

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2001
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:
RCV000736237.1

Allele description [Variation Report for NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile)]

NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile)

Gene:
ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile)
HGVS:
  • NC_000023.11:g.54758587T>A
  • NG_013240.1:g.44654A>T
  • NM_198510.3:c.1487A>TMANE SELECT
  • NP_940912.1:p.Asn496Ile
  • NC_000023.10:g.54785020T>A
  • NM_198510.2:c.1487A>T
Protein change:
N496I
Links:
dbSNP: rs1569543903
NCBI 1000 Genomes Browser:
rs1569543903
Molecular consequence:
  • NM_198510.3:c.1487A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864534Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
no assertion criteria provided
Uncertain significance
(Nov 18, 2001) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022