ClinVar

NM_000101.4(CYBA):c.214T>C (p.Tyr72His)

Gene:

CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.2

Genomic location:

• Chr16: 88646828 (on Assembly GRCh38)
• Chr16: 88713236 (on Assembly GRCh37)

Preferred name:

NM_000101.4(CYBA):c.214T>C (p.Tyr72His)

Other names:

CYBA, HIS72TYR, 242C-T; H72Y

HGVS:

• NC_000016.10:g.88646828A>G
• NG_007291.1:g.9222T>C
• NM_000101.4:c.214T>CMANE SELECT
• NP_000092.2:p.Tyr72His
• LRG_52:g.9222T>C
• NC_000016.9:g.88713236A>G
• NM_000101.2:c.214T>C
• NM_000101.3:c.214T>C
• P13498:p.Tyr72His

This HGVS expression did not pass validation

Protein change:

Y72H; HIS72TYR

Links:

UniProtKB: P13498#VAR_005122; OMIM: 608508.0008; dbSNP: rs4673

NCBI 1000 Genomes Browser:

rs4673

Molecular consequence:

• NM_000101.4:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]