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NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) AND HEMOGLOBIN YUSA

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:
RCV000016653.5

Allele description [Variation Report for NM_000518.4(HBB):c.64G>T (p.Asp22Tyr)]

NM_000518.4(HBB):c.64G>T (p.Asp22Tyr)

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_000518.4(HBB):c.64G>T (p.Asp22Tyr)
Other names:
D21Y
HGVS:
  • NC_000011.10:g.5226958C>A
  • NG_000007.3:g.70658G>T
  • NG_042296.1:g.489C>A
  • NG_046672.1:g.4893C>A
  • NG_059281.1:g.5114G>T
  • NM_000518.5:c.64G>TMANE SELECT
  • NP_000509.1:p.Asp22Tyr
  • LRG_1232t1:c.64G>T
  • LRG_1232:g.5114G>T
  • LRG_1232p1:p.Asp22Tyr
  • NC_000011.9:g.5248188C>A
  • NM_000518.4:c.64G>T
  • P68871:p.Asp22Tyr
Protein change:
D22Y; ASP21TYR
Links:
HBVAR: 260; UniProtKB: P68871#VAR_002893; OMIM: 141900.0309; dbSNP: rs33950093
NCBI 1000 Genomes Browser:
rs33950093
Molecular consequence:
  • NM_000518.5:c.64G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN YUSA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036922OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hb Hope [beta 136 (H 14) Gly leads to Asp] in a Japanese family.

Harano T, Harano K, Ueda S, Shibata S, Imai K, Nakai T.

Hemoglobin. 1983;7(3):263-5. No abstract available.

PubMed [citation]
PMID:
6874374

Hb Cocody [beta 21(B3)Asp----Asn] and Hb Yusa [beta 21(B3)ASP----TYR] found in Japan.

Ohba Y, Hattori Y, Ami Y, Yagami H, Miyaji T, Tani Y.

Hemoglobin. 1990;14(1):109-14. No abstract available.

PubMed [citation]
PMID:
2384310

Details of each submission

From OMIM, SCV000036922.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Harano et al. (1981) and Ohba et al. (1990).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022