ClinVar

NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)

Gene:

TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.1

Genomic location:

• Chr7: 19116960 (on Assembly GRCh38)
• Chr7: 19156583 (on Assembly GRCh37)

Preferred name:

NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)

HGVS:

• NC_000007.14:g.19116960G>A
• NG_008114.2:g.5713C>T
• NM_000474.4:c.362C>TMANE SELECT
• NP_000465.1:p.Thr121Ile
• NC_000007.13:g.19156583G>A
• NC_000007.13:g.19156583G>A
• NM_000474.3:c.362C>T
• NR_149001.2:n.677C>T

This HGVS expression did not pass validation

Protein change:

T121I

Links:

dbSNP: rs1585617108

NCBI 1000 Genomes Browser:

rs1585617108

Molecular consequence:

• NM_000474.4:c.362C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149001.2:n.677C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]