ClinVar

NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)

Gene:

MYO1B:myosin IB [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q32.3

Genomic location:

• Chr2: 191411069 (on Assembly GRCh38)
• Chr2: 192275795 (on Assembly GRCh37)

Preferred name:

NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)

HGVS:

• NC_000002.12:g.191411074del
• NM_001130158.3:c.2775delMANE SELECT
• NM_001161819.3:c.2775del
• NM_001330237.2:c.2688del
• NM_001330238.2:c.2688del
• NM_012223.5:c.2601del
• NP_001123630.1:p.Lys925fs
• NP_001155291.1:p.Lys925fs
• NP_001317166.1:p.Lys896fs
• NP_001317167.1:p.Lys896fs
• NP_036355.2:p.Lys867fs
• NC_000002.11:g.192275800del
• NM_001130158.3:c.2775delAMANE SELECT

This HGVS expression did not pass validation

Protein change:

K867fs

Links:

dbSNP: rs1697225194

NCBI 1000 Genomes Browser:

rs1697225194

Molecular consequence:

• NM_001130158.3:c.2775del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001161819.3:c.2775del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001330237.2:c.2688del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001330238.2:c.2688del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_012223.5:c.2601del - frameshift variant - [Sequence Ontology: SO:0001589]