NM_005522.5(HOXA1):c.175dup (p.Val59fs) AND Human HOXA1 syndromes

Clinical significance:Pathogenic (Last evaluated: Jan 29, 2019)

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:
RCV000984930.1

Allele description [Variation Report for NM_005522.5(HOXA1):c.175dup (p.Val59fs)]

NM_005522.5(HOXA1):c.175dup (p.Val59fs)

Gene:
HOXA1:homeobox A1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
HGVS:
  • NC_000007.14:g.27095743dup
  • NG_011813.1:g.5269dup
  • NG_033087.1:g.4650dup
  • NM_005522.4:c.175dup
  • NM_005522.5:c.175dupMANE SELECT
  • NM_153620.3:c.175dup
  • NP_005513.1:p.Val59fs
  • NP_005513.2:p.Val59fs
  • NP_705873.3:p.Val59fs
  • NC_000007.13:g.27135362dup
  • NM_005522.4:c.175dupG
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
V59fs
Links:
OMIM: 142955.0001; dbSNP: rs769152039
NCBI 1000 Genomes Browser:
rs769152039
Molecular consequence:
  • NM_005522.4:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005522.5:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153620.3:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Human HOXA1 syndromes (ABDS)
Synonyms:
Athabaskan brainstem dysgenesis; Navajo brainstem syndrome; Athabaskan brainstem dysgenesis syndrome
Identifiers:
MONDO: MONDO:0011099; MedGen: C1832215; Orphanet: 69737; Orphanet: 69739; OMIM: 601536

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132843Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedPathogenic
(Jan 29, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001132843.1

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

Last Updated: Nov 27, 2021

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