ClinVar

NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)

Gene:

GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33018489 (on Assembly GRCh38)
• Chr3: 33059981 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)

HGVS:

• NC_000003.12:g.33018489G>A
• NG_009005.1:g.83714C>T
• NM_000404.3:c.1306C>T
• NM_000404.4:c.1306C>TMANE SELECT
• NM_001079811.3:c.1216C>T
• NM_001135602.3:c.913C>T
• NM_001317040.2:c.1450C>T
• NM_001393580.1:c.1306C>T
• NP_000395.2:p.Leu436Phe
• NP_000395.3:p.Leu436Phe
• NP_001073279.2:p.Leu406Phe
• NP_001129074.2:p.Leu305Phe
• NP_001303969.2:p.Leu484Phe
• NP_001380509.1:p.Leu436Phe
• NC_000003.11:g.33059981G>A
• NM_000404.2:c.1306C>T
• NM_001135602.1:c.913C>T

This HGVS expression did not pass validation

Protein change:

L305F

Links:

dbSNP: rs34421970

NCBI 1000 Genomes Browser:

rs34421970

Molecular consequence:

• NM_000404.4:c.1306C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079811.3:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135602.3:c.913C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317040.2:c.1450C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393580.1:c.1306C>T - missense variant - [Sequence Ontology: SO:0001583]