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NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) AND DOHH-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 15, 2022
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:
RCV003163798.2

Allele description [Variation Report for NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)]

NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)

Gene:
DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)
Other names:
p.P152L
HGVS:
  • NC_000019.10:g.3492396G>A
  • NM_001145165.2:c.455C>TMANE SELECT
  • NM_031304.5:c.455C>T
  • NP_001138637.1:p.Pro152Leu
  • NP_112594.1:p.Pro152Leu
  • NC_000019.9:g.3492394G>A
  • NM_001145165.2:c.455C>T
  • NM_031304.4:c.455C>T
Protein change:
P152L; PRO152LEU
Links:
OMIM: 611262.0005; dbSNP: rs553950608
NCBI 1000 Genomes Browser:
rs553950608
Molecular consequence:
  • NM_001145165.2:c.455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031304.5:c.455C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
DOHH-related disorder
Synonyms:
DOHH-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003915637Undiagnosed Diseases Network, NIH
no assertion criteria provided
Likely pathogenic
(Nov 15, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

Ziegler A, Steindl K, Hanner AS, Kar RK, Prouteau C, Boland A, Deleuze JF, Coubes C, Bézieau S, Küry S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D, Park MH.

Am J Hum Genet. 2022 Aug 4;109(8):1549-1558. doi: 10.1016/j.ajhg.2022.06.010. Epub 2022 Jul 19.

PubMed [citation]
PMID:
35858628
PMCID:
PMC9388783

Details of each submission

From Undiagnosed Diseases Network, NIH, SCV003915637.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: May 16, 2025