ClinVar

NM_016169.4(SUFU):c.6G>T (p.Ala2=)

Genes:

LOC130004614:ATAC-STARR-seq lymphoblastoid silent region 2764 [Gene]
SUFU:SUFU negative regulator of hedgehog signaling [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 102504158 (on Assembly GRCh38)
• Chr10: 104263915 (on Assembly GRCh37)

Preferred name:

NM_016169.4(SUFU):c.6G>T (p.Ala2=)

HGVS:

• NC_000010.11:g.102504158G>T
• NG_011901.1:g.3598C>A
• NG_021338.1:g.5197G>T
• NM_001178133.2:c.6G>T
• NM_016169.4:c.6G>TMANE SELECT
• NP_001171604.1:p.Ala2=
• NP_057253.2:p.Ala2=
• NP_057253.2:p.Ala2=
• LRG_521t1:c.6G>T
• LRG_521:g.5197G>T
• LRG_521p1:p.Ala2=
• NC_000010.10:g.104263915G>T
• NM_016169.3:c.6G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs746555296

NCBI 1000 Genomes Browser:

rs746555296

Molecular consequence:

• NM_001178133.2:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016169.4:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]