ClinVar

NM_002474.3(MYH11):c.3858+616T>C

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: 15726232 (on Assembly GRCh38)
• Chr16: 15820089 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.3858+616T>C

HGVS:

• NC_000016.10:g.15726232A>G
• NG_009299.1:g.135799T>C
• NG_021210.1:g.87966A>G
• NM_001040113.2:c.3879+616T>C
• NM_001040114.2:c.3879+616T>C
• NM_001143979.2:c.*1981A>G
• NM_002474.3:c.3858+616T>CMANE SELECT
• NM_017668.3:c.*1981A>GMANE SELECT
• NM_022844.3:c.3858+616T>C
• LRG_1401t1:c.3858+616T>C
• LRG_1401t2:c.3879+616T>C
• LRG_1401:g.135799T>C
• NC_000016.9:g.15820089A>G
• NM_001143979.1:c.*1981A>G
• NM_002474.2:c.3858+616T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886051756

NCBI 1000 Genomes Browser:

rs886051756

Molecular consequence:

• NM_001143979.2:c.*1981A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_017668.3:c.*1981A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001040113.2:c.3879+616T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040114.2:c.3879+616T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002474.3:c.3858+616T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_022844.3:c.3858+616T>C - intron variant - [Sequence Ontology: SO:0001627]