NM_000518.4(HBB):c.93G>T (p.Arg31Ser) AND not specified

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1985
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:: RCV000016619.3

Allele description

NM_000518.4(HBB):c.93G>T (p.Arg31Ser)

Gene:

HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.4(HBB):c.93G>T (p.Arg31Ser)

Other names:

Hb Tacoma

HGVS:

NC_000011.10:g.5226799C>A
NG_000007.3:g.70817G>T
NM_000518.4:c.93G>T
NP_000509.1:p.Arg31Ser
HBB:c.93G>T
NC_000011.9:g.5248029C>A

Protein change:

R30S; ARG30SER

Links:

OMIM: 141900.0278; dbSNP: rs1135071

GMAF:

0.0002(A), 1135071

NCBI 1000 Genomes Browser:

rs1135071

Allele Frequency:

0.00028(A)

Molecular consequence:

NM_000518.4:c.93G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036888	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1985)	germline	literature only	PubMed (5) [See all records that cite these PMIDs] 5869485, 5785231, 4525423, 711920, 3937827

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036888

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1985)

germline

literature only

PubMed (5)
[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 tacoma--a beta-chain variant associated with increased hb A2.

Baur EW, Motulsky AG.

Humangenetik. 1965;1(7):621-34. No abstract available.

PubMed [citation]

PMID:: 5869485

Structural characterization of hemoglobin Tacoma.

Brimhall B, Jones RT, Baur EW, Motulsky AG.

Biochemistry. 1969 May;8(5):2125-9. No abstract available.

PubMed [citation]

PMID:: 5785231

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000036888.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

Description

See Baur and Motulsky (1965), Brimhall et al. (1969), Idelson et al. (1974), Deacon-Smith and Lee-Potter (1978), and Harano et al. (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: Dec 23, 2016

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