ClinVar

NM_000404.4(GLB1):c.63G>A (p.Thr21=)

Genes:

LOC129936434:ATAC-STARR-seq lymphoblastoid silent region 14182 [Gene]
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
TMPPE:transmembrane protein with metallophosphoesterase domain [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33097023 (on Assembly GRCh38)
• Chr3: 33138515 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.63G>A (p.Thr21=)

HGVS:

• NC_000003.12:g.33097023C>T
• NG_009005.1:g.5180G>A
• NG_009005.2:g.5123G>A
• NG_169445.1:g.390C>T
• NM_000404.4:c.63G>AMANE SELECT
• NM_001039770.3:c.-413G>AMANE SELECT
• NM_001135602.3:c.63G>A
• NM_001136238.2:c.-309G>A
• NM_001317040.2:c.63G>A
• NM_001393580.1:c.63G>A
• NP_000395.3:p.Thr21=
• NP_001129074.2:p.Thr21=
• NP_001303969.2:p.Thr21=
• NP_001380509.1:p.Thr21=
• NC_000003.11:g.33138515C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2125591533

NCBI 1000 Genomes Browser:

rs2125591533

Molecular consequence:

• NM_001039770.3:c.-413G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001136238.2:c.-309G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000404.4:c.63G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135602.3:c.63G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317040.2:c.63G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001393580.1:c.63G>A - synonymous variant - [Sequence Ontology: SO:0001819]