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NM_000559.3(HBG1):c.112T>G (p.Trp38Gly) AND HEMOGLOBIN F (COBB)

Germline classification:
other (1 submission)
Last evaluated:
Jul 15, 2011
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:
RCV000016150.1

Allele description [Variation Report for NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)]

NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)

Genes:
LOC106099064:HBG1 recombination region [Gene]
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)
Other names:
W37G; Hb F-Cobb
HGVS:
  • NC_000011.10:g.5249571A>C
  • NG_000007.3:g.48045T>G
  • NG_042298.1:g.604A>C
  • NM_000559.3:c.112T>GMANE SELECT
  • NP_000550.2:p.Trp38Gly
  • NP_000550.2:p.Trp38Gly
  • NC_000011.9:g.5270801A>C
  • NM_000559.2:c.112T>G
Protein change:
W38G; TRP37GLY
Links:
HBVAR: 626; OMIM: 142200.0006; dbSNP: rs35700518
NCBI 1000 Genomes Browser:
rs35700518
Molecular consequence:
  • NM_000559.3:c.112T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN F (COBB)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036418OMIM
no assertion criteria provided
other
(Jul 15, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp----Gly.

Chen SS, Webber BB, Kutlar A, Wilson JB, Huisman TH.

Hemoglobin. 1985;9(6):617-9. No abstract available.

PubMed [citation]
PMID:
2419280

Details of each submission

From OMIM, SCV000036418.1

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

Description

See Chen et al. (1985).

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

Last Updated: Apr 23, 2022