NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) AND HEMOGLOBIN NUNOBIKI

Germline classification:: other (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV000017126.4

Allele description [Variation Report for NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)]

NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)

Other names:

R141C

HGVS:

NC_000016.10:g.177406C>T
NG_000006.1:g.38269C>T
NG_046166.1:g.2889C>T
NG_059186.1:g.5756C>T
NM_000558.5:c.424C>TMANE SELECT
NP_000549.1:p.Arg142Cys
LRG_1225t1:c.424C>T
LRG_1225:g.5756C>T
LRG_1225p1:p.Arg142Cys
NC_000016.9:g.227405C>T
P69905:p.Arg142Cys

Protein change:

R142C; ARG141CYS

Links:

HBVAR: 216; UniProtKB: P69905#VAR_002852; OMIM: 141800.0109; dbSNP: rs33991910

NCBI 1000 Genomes Browser:

rs33991910

Molecular consequence:

NM_000558.5:c.424C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN NUNOBIKI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037398	OMIM	no assertion criteria provided	other (Nov 1, 2019)	germline	literature only	Shimasaki, S., Iuchi, I., Hidaka, K., Mizuta, W. The survey of abnormal hemoglobin in Kobe district. Jpn. J. Hum. Genet. 28: 127-128, 1983.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037398

OMIM

no assertion criteria provided

other
(Nov 1, 2019)

germline

literature only

Shimasaki, S., Iuchi, I., Hidaka, K., Mizuta, W. The survey of abnormal hemoglobin in Kobe district. Jpn. J. Hum. Genet. 28: 127-128, 1983.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000037398.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

This hemoglobin showed an extremely high oxygen affinity. The patient, who had 'marginal erythrocytosis' (ECYT7; 617981), was shown to have 13.1% Hb Nunobiki (Shimasaki, 1985).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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