ClinVar

NM_004960.4(FUS):c.291C>T (p.Tyr97=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31183958 (on Assembly GRCh38)
• Chr16: 31195279 (on Assembly GRCh37)

Preferred name:

NM_004960.4(FUS):c.291C>T (p.Tyr97=)

HGVS:

• NC_000016.10:g.31183958C>T
• NG_012889.2:g.8827C>T
• NM_001170634.1:c.288C>T
• NM_001170937.1:c.291C>T
• NM_004960.4:c.291C>TMANE SELECT
• NP_001164105.1:p.Tyr96=
• NP_001164408.1:p.Tyr97=
• NP_004951.1:p.Tyr97=
• NP_004951.1:p.Tyr97=
• LRG_655t1:c.291C>T
• LRG_655:g.8827C>T
• LRG_655p1:p.Tyr97=
• NC_000016.9:g.31195279C>T
• NM_004960.3:c.291C>T
• NR_028388.2:n.396C>T
• p.Tyr97Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs1052352

NCBI 1000 Genomes Browser:

rs1052352

Molecular consequence:

• NR_028388.2:n.396C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001170634.1:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001170937.1:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004960.4:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]