ClinVar

NM_018389.5(SLC35C1):c.123C>T (p.Ile41=)

Gene:

SLC35C1:solute carrier family 35 member C1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 45805924 (on Assembly GRCh38)
• Chr11: 45827475 (on Assembly GRCh37)

Preferred name:

NM_018389.5(SLC35C1):c.123C>T (p.Ile41=)

HGVS:

• NC_000011.10:g.45805924C>T
• NG_009875.1:g.6853C>T
• NM_001145265.2:c.84C>T
• NM_001145266.2:c.84C>T
• NM_018389.5:c.123C>TMANE SELECT
• NP_001138737.1:p.Ile28=
• NP_001138738.1:p.Ile28=
• NP_001138738.1:p.Ile28=
• NP_060859.4:p.Ile41=
• NP_060859.4:p.Ile41=
• LRG_107t1:c.123C>T
• LRG_107:g.6853C>T
• LRG_107p1:p.Ile41=
• NC_000011.9:g.45827475C>T
• NM_001145266.1:c.84C>T
• NM_018389.4:c.123C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1590742957

NCBI 1000 Genomes Browser:

rs1590742957

Molecular consequence:

• NM_001145265.2:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145266.2:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018389.5:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]