ClinVar

NM_001145809.2(MYH14):c.208C>T (p.Leu70=)

Gene:

MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50210573 (on Assembly GRCh38)
• Chr19: 50713830 (on Assembly GRCh37)

Preferred name:

NM_001145809.2(MYH14):c.208C>T (p.Leu70=)

HGVS:

• NC_000019.10:g.50210573C>T
• NG_011645.1:g.11946C>T
• NM_001077186.2:c.208C>T
• NM_001145809.2:c.208C>TMANE SELECT
• NM_024729.4:c.208C>T
• NP_001070654.1:p.Leu70=
• NP_001139281.1:p.Leu70=
• NP_079005.3:p.Leu70=
• NC_000019.9:g.50713830C>T
• NM_024729.3:c.208C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2123156519

NCBI 1000 Genomes Browser:

rs2123156519

Molecular consequence:

• NM_001077186.2:c.208C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145809.2:c.208C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024729.4:c.208C>T - synonymous variant - [Sequence Ontology: SO:0001819]