ClinVar

NM_000260.4(MYO7A):c.612C>A (p.Thr204=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77156881 (on Assembly GRCh38)
• Chr11: 76867927 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.612C>A (p.Thr204=)

HGVS:

• NC_000011.10:g.77156881C>A
• NG_009086.1:g.33618C>A
• NG_009086.2:g.33636C>A
• NM_000260.4:c.612C>AMANE SELECT
• NM_001127180.2:c.612C>A
• NM_001369365.1:c.579C>A
• NP_000251.3:p.Thr204=
• NP_001120652.1:p.Thr204=
• NP_001356294.1:p.Thr193=
• LRG_1420t1:c.612C>A
• LRG_1420:g.33636C>A
• LRG_1420p1:p.Thr204=
• NC_000011.9:g.76867927C>A
• NM_000260.3:c.612C>A
• p.Thr204Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs1555062863

NCBI 1000 Genomes Browser:

rs1555062863

Molecular consequence:

• NM_000260.4:c.612C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.612C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.579C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1