ClinVar

NM_000257.4(MYH7):c.4954-5C>T

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23415837 (on Assembly GRCh38)
• Chr14: 23885046 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4954-5C>T

HGVS:

• NC_000014.9:g.23415837G>A
• NG_007884.1:g.24825C>T
• NM_000257.4:c.4954-5C>TMANE SELECT
• LRG_384:g.24825C>T
• NC_000014.8:g.23885046G>A
• NM_000257.3:c.4954-5C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs962469283

NCBI 1000 Genomes Browser:

rs962469283

Molecular consequence:

• NM_000257.4:c.4954-5C>T - intron variant - [Sequence Ontology: SO:0001627]