ClinVar

NM_004960.4(FUS):c.273C>T (p.Tyr91=)

Gene:

FUS:FUS RNA binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31183940 (on Assembly GRCh38)
• Chr16: 31195261 (on Assembly GRCh37)

Preferred name:

NM_004960.4(FUS):c.273C>T (p.Tyr91=)

HGVS:

• NC_000016.10:g.31183940C>T
• NG_012889.2:g.8809C>T
• NM_001170634.1:c.270C>T
• NM_001170937.1:c.273C>T
• NM_004960.4:c.273C>TMANE SELECT
• NP_001164105.1:p.Tyr90=
• NP_001164408.1:p.Tyr91=
• NP_004951.1:p.Tyr91=
• LRG_655t1:c.273C>T
• LRG_655:g.8809C>T
• NC_000016.9:g.31195261C>T
• NM_004960.3:c.273C>T
• NR_028388.2:n.378C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs73530286

NCBI 1000 Genomes Browser:

rs73530286

Molecular consequence:

• NR_028388.2:n.378C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001170634.1:c.270C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001170937.1:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004960.4:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]