ClinVar

NM_003710.4(SPINT1):c.1531C>T (p.Arg511Trp)

Gene:

SPINT1:serine peptidase inhibitor, Kunitz type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 40856964 (on Assembly GRCh38)
• Chr15: 41149162 (on Assembly GRCh37)

Preferred name:

NM_003710.4(SPINT1):c.1531C>T (p.Arg511Trp)

HGVS:

• NC_000015.10:g.40856964C>T
• NG_029239.1:g.17917C>T
• NM_001032367.2:c.1531C>T
• NM_001386873.1:c.1579C>T
• NM_001386874.1:c.1453C>T
• NM_001386875.1:c.1405C>T
• NM_003710.4:c.1531C>TMANE SELECT
• NM_181642.3:c.1579C>T
• NP_001027539.1:p.Arg511Trp
• NP_001373802.1:p.Arg527Trp
• NP_001373803.1:p.Arg485Trp
• NP_001373804.1:p.Arg469Trp
• NP_003701.1:p.Arg511Trp
• NP_857593.1:p.Arg527Trp
• NC_000015.9:g.41149162C>T
• NM_181642.2:c.1579C>T

This HGVS expression did not pass validation

Protein change:

R469W

Molecular consequence:

• NM_001032367.2:c.1531C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386873.1:c.1579C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386874.1:c.1453C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386875.1:c.1405C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003710.4:c.1531C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181642.3:c.1579C>T - missense variant - [Sequence Ontology: SO:0001583]