ClinVar

NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)

Genes:

LOC130063295:ATAC-STARR-seq lymphoblastoid silent region 9955 [Gene]
TUBB4A:tubulin beta 4A class IVa [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 6502209 (on Assembly GRCh38)
• Chr19: 6502220 (on Assembly GRCh37)

Preferred name:

NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)

HGVS:

• NC_000019.10:g.6502209G>A
• NG_033896.1:g.5640C>T
• NM_001289123.2:c.157C>T
• NM_001289127.2:c.139C>T
• NM_001289129.2:c.4C>T
• NM_001289130.2:c.-170C>T
• NM_001289131.2:c.-137C>T
• NM_006087.4:c.4C>TMANE SELECT
• NP_001276052.1:p.Arg53Trp
• NP_001276056.1:p.Arg47Trp
• NP_001276058.1:p.Arg2Trp
• NP_006078.2:p.Arg2Trp
• NC_000019.9:g.6502220G>A
• NM_006087.2:c.4C>T
• NM_006087.3:c.4C>T

This HGVS expression did not pass validation

Protein change:

R2W

Links:

dbSNP: rs587776983

NCBI 1000 Genomes Browser:

rs587776983

Molecular consequence:

• NM_001289130.2:c.-170C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001289131.2:c.-137C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001289123.2:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289127.2:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289129.2:c.4C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006087.4:c.4C>T - missense variant - [Sequence Ontology: SO:0001583]