ClinVar

NM_000404.4(GLB1):c.34T>C (p.Leu12=)

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: 33097052 (on Assembly GRCh38)
• Chr3: 33138544 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.34T>C (p.Leu12=)

HGVS:

• NC_000003.12:g.33097052A>G
• NG_009005.1:g.5151T>C
• NG_009005.2:g.5094T>C
• NG_169445.1:g.419A>G
• NM_000404.4:c.34T>CMANE SELECT
• NM_001039770.3:c.-442T>CMANE SELECT
• NM_001135602.3:c.34T>C
• NM_001136238.2:c.-338T>C
• NM_001317040.2:c.34T>C
• NM_001393580.1:c.34T>C
• NP_000395.3:p.Leu12=
• NP_001129074.2:p.Leu12=
• NP_001303969.2:p.Leu12=
• NP_001380509.1:p.Leu12=
• NC_000003.11:g.33138544A>G
• NM_000404.2:c.34T>C
• NM_000404.3:c.34T>C
• NP_000395.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs7614776

NCBI 1000 Genomes Browser:

rs7614776

Molecular consequence:

• NM_001039770.3:c.-442T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001136238.2:c.-338T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000404.4:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135602.3:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317040.2:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001393580.1:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]