ClinVar

NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)

Genes:

LOC129996027:ATAC-STARR-seq lymphoblastoid active region 24208 [Gene]
H4C5:H4 clustered histone 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26204780 (on Assembly GRCh38)
• Chr6: 26205008 (on Assembly GRCh37)

Preferred name:

NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)

Other names:

H4C5, ARG46CYS

HGVS:

• NC_000006.12:g.26204780C>T
• NM_003545.4:c.136C>TMANE SELECT
• NP_003536.1:p.Arg46Cys
• NC_000006.11:g.26205008C>T
• NM_003545.3:c.136C>T

This HGVS expression did not pass validation

Protein change:

R46C; ARG46CYS

Links:

OMIM: 602830.0004; dbSNP: rs950721550

NCBI 1000 Genomes Browser:

rs950721550

Molecular consequence:

• NM_003545.4:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]