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NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) AND Neutropenia, severe congenital, 1, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2014
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:
RCV000224333.1

Allele description [Variation Report for NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)]

NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)

Gene:
TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)
HGVS:
  • NC_000011.10:g.68050224C>A
  • NG_007878.1:g.16209C>A
  • NM_001351059.2:c.1312C>A
  • NM_006019.4:c.2206C>AMANE SELECT
  • NM_006053.4:c.1558C>A
  • NP_001337988.1:p.Arg438Ser
  • NP_006010.2:p.Arg736Ser
  • NP_006044.1:p.Arg520Ser
  • LRG_115:g.16209C>A
  • NC_000011.9:g.67817691C>A
  • NM_006019.3:c.2206C>A
Protein change:
R438S; ARG736SER
Links:
OMIM: 604592.0008; dbSNP: rs587779413
NCBI 1000 Genomes Browser:
rs587779413
Molecular consequence:
  • NM_001351059.2:c.1312C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006019.4:c.2206C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006053.4:c.1558C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neutropenia, severe congenital, 1, autosomal dominant
Identifiers:
MONDO: MONDO:0042490; MedGen: C1859966; OMIM: 202700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281724University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Pathogenic
(Nov 25, 2014)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

TCIRG1-associated congenital neutropenia.

Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics.

Hum Mutat. 2014 Jul;35(7):824-7. doi: 10.1002/humu.22563. Epub 2014 May 21.

PubMed [citation]
PMID:
24753205
PMCID:
PMC4055522

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000281724.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 8, 2023