ClinVar

NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15724368 (on Assembly GRCh38)
• Chr16: 15818225 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)

Other names:

p.T1386T:ACC>ACT

HGVS:

• NC_000016.10:g.15724368G>A
• NG_009299.1:g.137663C>T
• NG_021210.1:g.86102G>A
• NM_001040113.2:c.4179C>T
• NM_001040114.2:c.4179C>T
• NM_001143979.2:c.*117G>A
• NM_002474.3:c.4158C>TMANE SELECT
• NM_017668.3:c.*117G>AMANE SELECT
• NM_022844.3:c.4158C>T
• NP_001035202.1:p.Thr1393=
• NP_001035203.1:p.Thr1393=
• NP_002465.1:p.Thr1386=
• NP_074035.1:p.Thr1386=
• LRG_1401t1:c.4158C>T
• LRG_1401t2:c.4179C>T
• LRG_1401:g.137663C>T
• LRG_1401p1:p.Thr1386=
• LRG_1401p2:p.Thr1393=
• NC_000016.9:g.15818225G>A
• NM_001040113.1:c.4179C>T
• NM_001143979.1:c.*117G>A
• NM_002474.2:c.4158C>T
• p.Thr1386Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs112377790

NCBI 1000 Genomes Browser:

rs112377790

Molecular consequence:

• NM_001143979.2:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_017668.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001040113.2:c.4179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001040114.2:c.4179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002474.3:c.4158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022844.3:c.4158C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

65