ClinVar

NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77183079 (on Assembly GRCh38)
• Chr11: 76894124 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)

HGVS:

• NC_000011.10:g.77183079C>T
• NG_009086.2:g.59834C>T
• NM_000260.4:c.3297C>TMANE SELECT
• NM_001127180.2:c.3297C>T
• NM_001369365.1:c.3264C>T
• NP_000251.3:p.Pro1099=
• NP_001120652.1:p.Pro1099=
• NP_001356294.1:p.Pro1088=
• LRG_1420t1:c.3297C>T
• LRG_1420:g.59834C>T
• LRG_1420p1:p.Pro1099=
• NC_000011.9:g.76894124C>T
• NG_009086.1:g.59815C>T
• NM_000260.3:c.3297C>T
• p.Pro1099Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs367668576

Molecular consequence:

• NM_000260.4:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.3264C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1