IthaID: 3781



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: CD 27 GCC>GCT [Ala>Ala] HGVS Name: HBB:c.84C>T

Context nucleotide sequence:
TGGATGAAGTTGGTGGTGAGGC [C/T] CTGGGCAGGTTGGTATCAAGGTT (Strand: -)

Also known as:

Comments: Variation is reported in ClinVar as Likely benign with a 2-star review status (multiple submitters, no conflict).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70678
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2021-04-05 12:48:49, Last reviewed on (Show full history)

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