ClinVar

NM_002474.3(MYH11):c.2025C>T (p.Phe675=)

Gene:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15750171 (on Assembly GRCh38)
• Chr16: 15844028 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.2025C>T (p.Phe675=)

HGVS:

• NC_000016.10:g.15750171G>A
• NG_009299.1:g.111860C>T
• NM_001040113.2:c.2046C>T
• NM_001040114.2:c.2046C>T
• NM_002474.3:c.2025C>TMANE SELECT
• NM_022844.3:c.2025C>T
• NP_001035202.1:p.Phe682=
• NP_001035203.1:p.Phe682=
• NP_002465.1:p.Phe675=
• NP_074035.1:p.Phe675=
• LRG_1401t1:c.2025C>T
• LRG_1401t2:c.2046C>T
• LRG_1401:g.111860C>T
• LRG_1401p1:p.Phe675=
• LRG_1401p2:p.Phe682=
• NC_000016.9:g.15844028G>A
• NC_000016.9:g.15844028G>A
• NM_001040113.1:c.2046C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs140684159

NCBI 1000 Genomes Browser:

rs140684159

Molecular consequence:

• NM_001040113.2:c.2046C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001040114.2:c.2046C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002474.3:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022844.3:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]