NM_000518.5(HBB):c.243C>A (p.Asn81Lys) AND HEMOGLOBIN G (SZUHU)

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016354.5

Allele description [Variation Report for NM_000518.5(HBB):c.243C>A (p.Asn81Lys)]

NM_000518.5(HBB):c.243C>A (p.Asn81Lys)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.243C>A (p.Asn81Lys)

Other names:

N80K

HGVS:

NC_000011.10:g.5226649G>T
NG_000007.3:g.70967C>A
NG_042296.1:g.180G>T
NG_046672.1:g.4584G>T
NG_053049.1:g.2970G>T
NG_059281.1:g.5423C>A
NM_000518.5:c.243C>AMANE SELECT
NP_000509.1:p.Asn81Lys
LRG_1232t1:c.243C>A
LRG_1232:g.5423C>A
LRG_1232p1:p.Asn81Lys
NC_000011.9:g.5247879G>T
P68871:p.Asn81Lys

Protein change:

N81K; ASN80LYS

Links:

UniProtKB: P68871#VAR_002984; OMIM: 141900.0087; dbSNP: rs35890380

NCBI 1000 Genomes Browser:

rs35890380

Molecular consequence:

NM_000518.5:c.243C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN G (SZUHU)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036622	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (6) [See all records that cite these PMIDs] 5791015, 5416123, 1150295, 8330979, 3841346, 1802885

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036622

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala.

Blackwell RQ, Ro IH, Liu CS, Yang HJ, Wang CC, Huang JT.

Am J Phys Anthropol. 1969 May;30(3):389-91. No abstract available.

PubMed [citation]

PMID:: 5791015

Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi.

Imai K, Morimoto H, Kotani M, Shibata S, Miyaji T.

Biochim Biophys Acta. 1970 Feb 17;200(2):197-202. No abstract available.

PubMed [citation]

PMID:: 5416123

See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000036622.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (6)

Description

See Blackwell et al. (1969), Imai et al. (1970), Kaufman et al. (1975), Welch (1975) and Romero et al. (1985). Schiliro et al. (1991) found this abnormal hemoglobin in 4 members from 2 generations of a Sicilian family.

#	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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